ClinVar Genomic variation as it relates to human health
NM_024817.3(THSD4):c.1701C>A (p.Asn567Lys)
Germline
Classification
(2)
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 | |||
THSD4 | - | - |
GRCh38 GRCh37 |
120 | 140 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 1, 2024 | RCV002292902.9 | |
Likely benign (1) |
|
Dec 28, 2022 | RCV003960989.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024