ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33(chr12:1019260-1562637)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
ERC1 | - | - |
GRCh38 GRCh38 GRCh37 |
80 | 170 | |
RAD52 | - | - |
GRCh38 GRCh37 |
27 | 120 | |
WNK1 | - | - |
GRCh38 GRCh37 |
1908 | 2005 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 8, 2017 | RCV000848785.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022