ClinVar Genomic variation as it relates to human health
NM_001371928.1(AHDC1):c.2606G>A (p.Gly869Asp)
Germline
Classification
(2)
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 | |||
AHDC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1135 | 1148 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 15, 2024 | RCV003563702.2 | |
AHDC1-related disorder
|
Uncertain significance (1) |
|
Mar 13, 2024 | RCV004750908.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024