ClinVar Genomic variation as it relates to human health
NM_001277058.2(ERCC6):c.2106T>C (p.Asn702=)
Germline
Classification
(2)
Likely benign
criteria provided, single submitter
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 | |||
ERCC6 | - | - |
GRCh38 GRCh37 |
1579 | 1955 | |
PGBD3 | - | - | - |
GRCh38 GRCh37 |
- | 244 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 20, 2019 | RCV004545699.2 | |
Likely benign (1) |
|
- | RCV004704949.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024