ClinVar Genomic variation as it relates to human health
NM_001492.6(GDF1):c.768_823del (p.Pro257fs)
Germline
Classification
(1)
Likely pathogenic
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 | |||
CERS1 | - | - |
GRCh38 GRCh37 |
- | 463 | |
GDF1 | - | - |
GRCh38 GRCh37 |
- | 463 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 18, 2024 | RCV003488807.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024