ClinVar Genomic variation as it relates to human health
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
Germline
Classification
(3)
Pathogenic/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) |
|
Jun 23, 2023 | RCV003317740.2 | |
Pathogenic (1) |
|
Mar 16, 2024 | RCV003459829.2 | |
Pathogenic (1) |
|
Jan 22, 2024 | RCV003561292.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024