ClinVar Genomic variation as it relates to human health
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 |
- | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 9, 2021 | RCV002698088.1 | |
Likely benign (1) |
|
Sep 24, 2023 | RCV003607562.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024