Inova Translational Medicine Institute
General information
Inova Translational Medicine Institute
Falls Church
Virginia
United States
http://www.inova.org/clinical-education-and-research/research/inova-translational-medicine-institute
Organization ID: 504914
Falls Church
Virginia
United States
http://www.inova.org/clinical-education-and-research/research/inova-translational-medicine-institute
Organization ID: 504914
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2701
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABL1 | 20 | May 29, 2014 |
| AKT1 | 3 | May 29, 2014 |
| ALK | 29 | May 29, 2014 |
| AMER1 | 19 | May 29, 2014 |
| AOPEP | 12 | May 29, 2014 |
| APC | 50 | May 29, 2014 |
| ARHGAP26 | 7 | May 29, 2014 |
| ARID1A | 11 | May 29, 2014 |
| ARID2 | 18 | May 29, 2014 |
| ASXL1 | 27 | May 29, 2014 |
| ATM | 62 | May 29, 2014 |
| ATRX | 21 | May 29, 2014 |
| BAP1 | 7 | May 29, 2014 |
| BCL6 | 9 | May 29, 2014 |
| BCOR | 20 | May 29, 2014 |
| BIVM-ERCC5 | 43 | May 29, 2014 |
| BLM | 29 | May 29, 2014 |
| BMPR1A | 5 | May 29, 2014 |
| BRAF | 4 | May 29, 2014 |
| BRCA1 | 46 | May 29, 2014 |
| BRCA2 | 86 | May 29, 2014 |
| BRIP1 | 26 | May 29, 2014 |
| BUB1B | 21 | May 29, 2014 |
| BUB1B-PAK6 | 1 | May 29, 2014 |
| C11orf65 | 18 | May 29, 2014 |
| C12orf43 | 2 | May 29, 2014 |
| C9 | 2 | Mar 6, 2017 |
| CARD11 | 23 | May 29, 2014 |
| CARD11-AS1 | 2 | May 29, 2014 |
| CBL | 12 | May 29, 2014 |
| CBLB | 16 | May 29, 2014 |
| CD79A | 7 | May 29, 2014 |
| CD79B | 3 | May 29, 2014 |
| CDC73 | 3 | May 29, 2014 |
| CDH1 | 20 | May 29, 2014 |
| CDK12 | 17 | May 29, 2014 |
| CDK4 | 5 | May 29, 2014 |
| CDKL5 | 1 | Sep 11, 2017 |
| CDKN1C | 1 | Jul 8, 2014 |
| CDKN2A | 12 | May 29, 2014 |
| CEBPA | 1 | May 29, 2014 |
| CEP128 | 3 | May 29, 2014 |
| CHEK2 | 10 | May 29, 2014 |
| CIC | 31 | May 29, 2014 |
| CREBBP | 30 | May 29, 2014 |
| CRLF2 | 5 | May 29, 2014 |
| CTNNB1 | 4 | May 29, 2014 |
| CYLD | 7 | May 29, 2014 |
| CYLD-AS2 | 3 | May 29, 2014 |
| DDB2 | 4 | May 29, 2014 |
| DICER1 | 16 | May 29, 2014 |
| DNM2 | 5 | May 29, 2014 |
| DNMT3A | 5 | May 29, 2014 |
| ECT2L | 33 | May 29, 2014 |
| EGFR | 20 | May 29, 2014 |
| EP300 | 35 | Mar 9, 2015 |
| EPCAM | 1 | Mar 31, 2017 |
| ERBB2 | 32 | May 29, 2014 |
| ERCC2 | 38 | May 29, 2014 |
| ERCC3 | 13 | May 29, 2014 |
| ERCC4 | 31 | May 29, 2014 |
| ERCC5 | 43 | May 29, 2014 |
| EXT1 | 6 | May 29, 2014 |
| EXT2 | 17 | May 29, 2014 |
| EZH2 | 10 | May 29, 2014 |
| FANCA | 63 | May 29, 2014 |
| FANCC | 17 | May 29, 2014 |
| FANCD2 | 20 | May 29, 2014 |
| FANCD2OS | 5 | May 29, 2014 |
| FANCE | 16 | May 29, 2014 |
| FANCF | 11 | May 29, 2014 |
| FANCG | 15 | May 29, 2014 |
| FAS | 5 | May 29, 2014 |
| FBXO11 | 5 | May 29, 2014 |
| FBXW7 | 7 | May 29, 2014 |
| FGFR2 | 10 | May 29, 2014 |
| FGFR3 | 19 | May 29, 2014 |
| FH | 8 | May 29, 2014 |
| FIP1L1 | 3 | May 29, 2014 |
| FLCN | 19 | May 29, 2014 |
| FLT3 | 21 | May 29, 2014 |
| FOXL2 | 1 | May 29, 2014 |
| FUBP1 | 7 | May 29, 2014 |
| GATA1 | 2 | May 29, 2014 |
| GATA2 | 5 | May 29, 2014 |
| GATA3 | 3 | May 29, 2014 |
| GH-LCR | 3 | May 29, 2014 |
| GLRA1 | 1 | Mar 6, 2017 |
| GNA11 | 1 | May 29, 2014 |
| GNAS | 27 | May 29, 2014 |
| GNAS-AS1 | 3 | May 29, 2014 |
| GPC3 | 4 | May 29, 2014 |
| GSK3A | 1 | Mar 31, 2017 |
| HNF1A | 31 | May 29, 2014 |
| HRAS | 1 | May 29, 2014 |
| HSD17B4 | 1 | Dec 1, 2015 |
| IDH1 | 8 | May 29, 2014 |
| IL7R | 20 | May 29, 2014 |
| INSL6 | 15 | May 29, 2014 |
| JAK1 | 9 | May 29, 2014 |
| JAK2 | 15 | May 29, 2014 |
| JAK3 | 25 | May 29, 2014 |
| KCNK12 | 3 | May 29, 2014 |
| KDM5C | 7 | May 29, 2014 |
| KDM6A | 8 | May 29, 2014 |
| KDR | 23 | May 29, 2014 |
| KIT | 12 | May 29, 2014 |
| KLF6 | 6 | May 29, 2014 |
| KMT2C | 84 | May 29, 2014 |
| KMT2D | 93 | May 29, 2014 |
| KRAS | 3 | May 29, 2014 |
| LOC100131635 | 8 | May 29, 2014 |
| LOC100507346 | 5 | May 29, 2014 |
| LOC105376032 | 1 | May 29, 2014 |
| LOC107303338 | 13 | May 29, 2014 |
| LOC107303340 | 2 | May 29, 2014 |
| LOC107980440 | 1 | May 29, 2014 |
| LOC112486223 | 2 | May 29, 2014 |
| LOC126805670 | 1 | May 29, 2014 |
| LOC126805749 | 1 | May 29, 2014 |
| LOC126806658 | 2 | May 29, 2014 |
| LOC126806659 | 1 | May 29, 2014 |
| LOC126806757 | 3 | May 29, 2014 |
| LOC126807054 | 1 | May 29, 2014 |
| LOC126859755 | 1 | May 29, 2014 |
| LOC126859807 | 2 | May 29, 2014 |
| LOC126860048 | 1 | May 29, 2014 |
| LOC126860342 | 1 | May 29, 2014 |
| LOC126861339 | 1 | May 29, 2014 |
| LOC126861520 | 3 | May 29, 2014 |
| LOC126861834 | 3 | May 29, 2014 |
| LOC126862571 | 8 | May 29, 2014 |
| LOC126863158 | 1 | May 29, 2014 |
| LOC126863239 | 7 | May 29, 2014 |
| LOC126863275 | 1 | May 29, 2014 |
| LOC129930680 | 1 | May 29, 2014 |
| LOC129930801 | 1 | May 29, 2014 |
| LOC129936244 | 3 | May 29, 2014 |
| LOC129996245 | 3 | May 29, 2014 |
| LOC129997295 | 1 | May 29, 2014 |
| LOC129999303 | 1 | May 29, 2014 |
| LOC129999675 | 2 | May 29, 2014 |
| LOC130001411 | 1 | May 29, 2014 |
| LOC130002133 | 2 | May 29, 2014 |
| LOC130005443 | 3 | May 29, 2014 |
| LOC130056830 | 1 | May 29, 2014 |
| LOC130058210 | 1 | May 29, 2014 |
| LOC130058479 | 1 | May 29, 2014 |
| LOC130058543 | 3 | May 29, 2014 |
| LOC130059837 | 1 | May 29, 2014 |
| LOC130062899 | 3 | May 29, 2014 |
| LOC130064563 | 1 | Mar 31, 2017 |
| LOC130064572 | 1 | May 29, 2014 |
| LRRC56 | 1 | May 29, 2014 |
| MED12 | 6 | May 29, 2014 |
| MEN1 | 4 | May 29, 2014 |
| MET | 30 | May 29, 2014 |
| MLH1 | 17 | May 29, 2014 |
| MPL | 25 | May 29, 2014 |
| MSH2 | 22 | May 29, 2014 |
| MSH6 | 22 | May 29, 2014 |
| MUTYH | 21 | May 29, 2014 |
| MYD88 | 4 | May 29, 2014 |
| NBN | 15 | May 29, 2014 |
| NEDD4L | 1 | Mar 31, 2017 |
| NF1 | 16 | May 29, 2014 |
| NF2 | 7 | May 29, 2014 |
| NFE2L2 | 12 | May 29, 2014 |
| NOTCH1 | 67 | Jul 21, 2014 |
| NOTCH2 | 30 | May 29, 2014 |
| NPM1 | 4 | May 29, 2014 |
| NRAS | 1 | May 29, 2014 |
| PAK6 | 1 | May 29, 2014 |
| PALB2 | 22 | May 29, 2014 |
| PAX5 | 9 | May 29, 2014 |
| PBRM1 | 8 | May 29, 2014 |
| PDGFRA | 26 | May 29, 2014 |
| PHF6 | 2 | May 29, 2014 |
| PHOX2B | 3 | May 29, 2014 |
| PHOX2B-AS1 | 1 | May 29, 2014 |
| PIK3CA | 3 | May 29, 2014 |
| PIK3R1 | 2 | May 29, 2014 |
| PLG | 1 | Nov 1, 2018 |
| PMS1 | 22 | May 29, 2014 |
| PMS2 | 31 | May 29, 2014 |
| PPP2R1A | 5 | May 29, 2014 |
| PRDM1 | 18 | May 29, 2014 |
| PRKAR1A | 1 | May 29, 2014 |
| PTCH1 | 29 | May 29, 2014 |
| PTEN | 1 | May 29, 2014 |
| PTPN11 | 5 | May 29, 2014 |
| RB1 | 13 | May 29, 2014 |
| RECQL4 | 55 | May 29, 2014 |
| RET | 23 | May 29, 2014 |
| RMI2 | 1 | May 29, 2014 |
| SCN5A | 1 | Mar 31, 2017 |
| SDHB | 4 | May 29, 2014 |
| SDHC | 3 | May 29, 2014 |
| SDHD | 6 | May 29, 2014 |
| SETD2 | 45 | May 29, 2014 |
| SF3B1 | 1 | May 29, 2014 |
| SMAD4 | 4 | May 29, 2014 |
| SMARCA4 | 17 | May 29, 2014 |
| SMARCB1 | 9 | May 29, 2014 |
| SMO | 16 | May 29, 2014 |
| SOCS1 | 5 | May 29, 2014 |
| STK11 | 4 | May 29, 2014 |
| SUFU | 8 | May 29, 2014 |
| TENT5C | 8 | May 29, 2014 |
| TET2 | 43 | May 29, 2014 |
| TET2-AS1 | 43 | May 29, 2014 |
| TNFAIP3 | 19 | May 29, 2014 |
| TNFRSF14 | 33 | May 29, 2014 |
| TNFRSF14-AS1 | 1 | May 29, 2014 |
| TP53 | 14 | May 29, 2014 |
| TSC1 | 24 | May 29, 2014 |
| TSC2 | 57 | May 29, 2014 |
| TSHR | 16 | May 29, 2014 |
| TSPAN31 | 2 | May 29, 2014 |
| VCP | 4 | May 29, 2014 |
| VHL | 5 | May 29, 2014 |
| WAS | 8 | May 29, 2014 |
| WRN | 44 | May 29, 2014 |
| WT1 | 5 | May 29, 2014 |
| XPA | 7 | May 29, 2014 |
| XPC | 30 | May 29, 2014 |
| XPO1 | 2 | May 29, 2014 |
| ZNF276 | 15 | May 29, 2014 |
| ZRSR2 | 4 | May 29, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Adams-Oliver syndrome 5 | 1 | Jul 21, 2014 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Dec 1, 2015 |
| Complement component 9 deficiency | 2 | Mar 6, 2017 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Mar 31, 2017 |
| Developmental and epileptic encephalopathy, 2 | 1 | Sep 11, 2017 |
| Hereditary angioneurotic edema | 1 | Nov 1, 2018 |
| Hyperekplexia 1 | 1 | Mar 6, 2017 |
| IMAGe syndrome | 1 | Jul 8, 2014 |
| Primary dilated cardiomyopathy | 3 | Mar 31, 2017 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Mar 9, 2015 |
| not specified | 2688 | May 29, 2014 |