ClinVar Genomic variation as it relates to human health
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
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 | |||
ATRX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2277 | 2439 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 14, 2020 | RCV001270425.2 | |
Likely benign (1) |
|
Jul 9, 2023 | RCV001451139.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024