ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
APPL1 | - | - |
GRCh38 GRCh37 |
136 | 174 | |
ARHGEF3 | - | - |
GRCh38 GRCh37 |
29 | 49 | |
ASB14 | - | - | - |
GRCh38 GRCh37 |
34 | 77 |
CCDC66 | - | - |
GRCh38 GRCh37 |
71 | 84 | |
DNAH12 | - | - |
GRCh38 GRCh37 |
234 | 245 | |
ERC2 | - | - |
GRCh38 GRCh37 |
39 | 48 | |
HESX1 | - | - |
GRCh38 GRCh37 |
114 | 125 | |
IL17RD | - | - |
GRCh38 GRCh37 |
118 | 201 | |
SPATA12 | - | - |
GRCh38 GRCh37 |
- | 18 | |
TASOR | - | - |
GRCh38 GRCh37 |
61 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 15, 2022 | RCV003485388.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024