ClinVar Genomic variation as it relates to human health
NC_000009.12:g.(?_130489323)_(130489474_?)del
Germline
Classification
(2)
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 | |||
ASS1 | - | - |
GRCh38 GRCh37 |
795 | 844 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 25, 2019 | RCV001033226.1 | |
Likely pathogenic (1) |
|
Aug 27, 2021 | RCV001379786.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024