ClinVar Genomic variation as it relates to human health
NM_080826.2(ISM1):c.690C>T (p.Ser230=)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
ISM1 | - | - |
GRCh38 GRCh37 |
2 | 83 | |
TASP1 | - | - |
GRCh38 GRCh37 |
41 | 149 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ISM1-related disorder
|
Likely benign (1) |
|
Aug 27, 2019 | RCV003962118.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024