ClinVar Genomic variation as it relates to human health
NM_005099.6(ADAMTS4):c.211G>A (p.Val71Ile)
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 | |||
ADAMTS4 | - | - |
GRCh38 GRCh37 |
48 | 90 | |
NDUFS2 | - | - |
GRCh38 GRCh37 |
205 | 269 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 14, 2024 | RCV004612806.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024