ClinVar Genomic variation as it relates to human health
NM_001492.6(GDF1):c.1087G>C (p.Asp363His)
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
CERS1 | - | - |
GRCh38 GRCh37 |
- | 471 | |
GDF1 | - | - |
GRCh38 GRCh37 |
2 | 473 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
GDF1-related disorder
|
Uncertain significance (1) |
|
Jun 21, 2024 | RCV004752248.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024