ClinVar Genomic variation as it relates to human health
NM_003031.4(SIAH1):c.108G>A (p.Ala36=)
Germline
Classification
(1)
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 | |||
LONP2 | - | - |
GRCh38 GRCh37 |
26 | 78 | |
SIAH1 | - | - |
GRCh38 GRCh37 |
5 | 54 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2023 | RCV003411346.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 07, 2024