ClinVar Genomic variation as it relates to human health
NM_015937.6(PIGT):c.33C>T (p.Val11=)
Germline
Classification
(2)
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 | |||
PIGT | - | - |
GRCh38 GRCh37 |
300 | 313 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Apr 11, 2023 | RCV002624891.3 | |
PIGT-related disorder
|
Likely benign (1) |
|
Apr 13, 2019 | RCV004540592.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024