ClinVar Genomic variation as it relates to human health
NM_000082.4(ERCC8):c.427del (p.Thr143fs)
Germline
Classification
(2)
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 | |||
ERCC8 | - | - |
GRCh38 GRCh37 |
481 | 594 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 9, 2022 | RCV003144994.3 | |
Pathogenic (1) |
|
Mar 26, 2024 | RCV003989821.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024