ClinVar Genomic variation as it relates to human health
NM_138348.6(OTULIN):c.737A>T (p.Asp246Val)
Germline
Classification
(1)
risk factor
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 | |||
OTULIN | - | - |
GRCh38 GRCh37 |
184 | 524 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
risk factor (1) |
|
Aug 10, 2022 | RCV002274848.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 04, 2023
NCBI staff provided HGVS expressions for allelic variant 615712.0005 from supplementary materials of the paper by Spaan et al., 2022 (PubMed 35587511).