ClinVar Genomic variation as it relates to human health
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
Germline
Classification
(2)
Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
ERCC2 | - | - |
GRCh38 GRCh37 |
2131 | 2185 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 2, 2023 | RCV003467929.1 | |
Likely pathogenic (1) |
|
Sep 15, 2023 | RCV003553951.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024