ClinVar Genomic variation as it relates to human health
NM_000400.4(ERCC2):c.2058T>G (p.Arg686=)
Germline
Classification
(2)
Likely benign
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 |
2127 | 2181 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 1, 2022 | RCV002421921.2 | |
Likely benign (1) |
|
Dec 17, 2023 | RCV003720608.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024