Baylor-Hopkins Center for Mendelian Genomics (Johns Hopkins University), BHCMG-JH
General information
Personnel
- David Valle, Principal Investigator
Phone: 4109554260
Email: dvalle@jhmi.edu - Elizabeth Wohler, Staff
Phone: 4432871104
Email: esquibb1@jhmi.edu
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- Gould et al., Nature Genet 2019
- Submitter's publication
- Submitter's publication
- Submitter's publication
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Summary of submissions to ClinVar
Total submissions: 201
Gene
Gene | Submissions | Last Updated |
---|---|---|
ACTG1 | 1 | Apr 26, 2019 |
ALMS1 | 5 | Sep 15, 2015 |
ASIC4-AS1 | 1 | Nov 15, 2017 |
BSND | 2 | May 20, 2019 |
CA12 | 2 | May 12, 2020 |
CABP2 | 1 | Apr 26, 2019 |
CDKN2A | 2 | Nov 28, 2022 |
CHD7 | 1 | Apr 26, 2019 |
CLDN9 | 1 | Apr 7, 2020 |
COL2A1 | 1 | Mar 28, 2016 |
COL6A1 | 1 | May 25, 2020 |
CYP27A1 | 1 | Nov 15, 2017 |
DDX41 | 1 | Mar 16, 2017 |
DNAJB6 | 1 | May 12, 2020 |
DNMT3B | 1 | Jul 12, 2017 |
ELP4 | 1 | Apr 26, 2019 |
ERBB3 | 1 | Aug 19, 2016 |
ESRRB | 1 | Apr 26, 2019 |
EXT2 | 1 | May 25, 2020 |
FBN1 | 1 | May 25, 2020 |
FGF3 | 1 | Apr 26, 2019 |
FN1 | 1 | Apr 26, 2019 |
GHR | 1 | Mar 6, 2020 |
GJB2 | 4 | May 20, 2019 |
GMPPA | 1 | Nov 15, 2017 |
GNAI2 | 1 | Mar 6, 2020 |
HCFC1 | 1 | Jul 12, 2017 |
HIF1A | 7 | Nov 28, 2022 |
HIF1A-AS3 | 7 | Nov 28, 2022 |
HNRNPK | 1 | Mar 28, 2016 |
HNRNPK-AS1 | 1 | Mar 28, 2016 |
IDH1 | 2 | Nov 28, 2022 |
IDH2 | 2 | Nov 28, 2022 |
ITPR1 | 1 | Sep 22, 2017 |
JUP | 1 | May 25, 2020 |
KDM4C | 3 | Nov 28, 2022 |
KMT2A | 2 | Jul 12, 2017 |
KMT2B | 1 | Jul 12, 2017 |
KMT2D | 13 | May 20, 2019 |
KRAS | 1 | Mar 6, 2020 |
LBR | 4 | May 12, 2020 |
LOC107303340 | 2 | Nov 28, 2022 |
LOC126806932 | 2 | Sep 15, 2015 |
LOC126861898 | 1 | May 25, 2020 |
LZTR1 | 4 | May 20, 2019 |
MBTPS1 | 1 | Feb 17, 2020 |
MSRB3 | 1 | Apr 26, 2019 |
MVP-DT | 1 | Oct 10, 2017 |
MYBPC3 | 1 | May 25, 2020 |
MYH14 | 1 | Apr 26, 2019 |
MYH7 | 1 | May 25, 2020 |
MYO7A | 2 | Apr 26, 2019 |
NCSTN | 1 | Mar 28, 2016 |
NFIX | 1 | May 25, 2020 |
NHLH1 | 1 | Mar 28, 2016 |
NIPBL | 1 | Apr 26, 2019 |
NOD2 | 3 | May 20, 2019 |
NOTCH3 | 5 | Mar 28, 2016 |
OCA2 | 3 | May 20, 2019 |
OTOA | 1 | Apr 26, 2019 |
OTOF | 4 | May 20, 2019 |
PAX6 | 1 | Apr 26, 2019 |
PCYT1A | 8 | Sep 15, 2015 |
PER2 | 2 | May 20, 2019 |
PGM1 | 1 | Mar 3, 2020 |
PIEZO2 | 1 | May 12, 2020 |
PLEC | 6 | May 20, 2019 |
PNPT1 | 2 | Mar 16, 2017 |
PRRT2 | 1 | Oct 10, 2017 |
RAB23 | 1 | Apr 26, 2019 |
RARS1 | 3 | Nov 15, 2017 |
RBM20 | 2 | May 20, 2019 |
RDX | 1 | Apr 26, 2019 |
ROBO4 | 12 | Jan 22, 2019 |
RPS6KA3 | 1 | May 12, 2020 |
SCN5A | 6 | Mar 16, 2017 |
SERPINF1 | 1 | Mar 28, 2016 |
SIX1 | 1 | May 25, 2020 |
SKI | 9 | Sep 15, 2015 |
SLC26A4 | 3 | May 20, 2019 |
SMARCB1 | 1 | May 20, 2019 |
SMC3 | 1 | Apr 26, 2019 |
SNAP29 | 1 | Mar 28, 2016 |
STAC3 | 1 | Nov 8, 2017 |
TAF1 | 1 | Apr 26, 2019 |
TELO2 | 6 | Aug 19, 2016 |
TENM3 | 1 | Apr 26, 2019 |
TGFB2 | 8 | Sep 15, 2015 |
TMC1 | 2 | May 20, 2019 |
TYR | 1 | May 20, 2019 |
USH2A | 2 | Mar 6, 2020 |
VHL | 5 | Nov 28, 2022 |
VPS33B | 1 | May 25, 2020 |
VPS37A | 1 | Mar 30, 2018 |
ZBTB24 | 1 | Jul 12, 2017 |
ZDBF2 | 1 | Mar 16, 2017 |
ZNF407 | 1 | Aug 13, 2019 |