ClinVar Genomic variation as it relates to human health
NM_003036.4(SKI):c.36G>C (p.Gln12His)
Germline
Classification
(2)
Uncertain significance
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 | |||
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1111 | 1258 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 29, 2023 | RCV003631457.2 | |
Uncertain significance (1) |
|
Mar 14, 2024 | RCV004371551.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024