ClinVar Genomic variation as it relates to human health
NM_020436.5(SALL4):c.1125C>T (p.Asp375=)
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 | |||
SALL4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
356 | 369 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 13, 2022 | RCV003108307.4 | |
Likely benign (1) |
|
Dec 1, 2022 | RCV003435974.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024