ClinVar Genomic variation as it relates to human health
NM_001348768.2(HECW2):c.1205C>T (p.Thr402Met)
Germline
Classification
(3)
Likely benign
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 | |||
HECW2 | - | - |
GRCh38 GRCh37 |
343 | 381 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Apr 1, 2023 | RCV002999494.6 | |
Likely benign (1) |
|
Dec 13, 2021 | RCV002999495.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024