ClinVar Genomic variation as it relates to human health
NM_016628.5(WAC):c.66G>T (p.Ser22=)
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 | |||
WAC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
258 | 289 | |
LOC130003576 | - | - | - | GRCh38 | - | 15 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
WAC-related disorder
|
Likely benign (1) |
|
Sep 5, 2019 | RCV003964125.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024