ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_89767135)_(89816621_?)del
Germline
Classification
(1)
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 | |||
FANCA | - | - |
GRCh38 GRCh37 |
4069 | 5189 | |
LOC112486223 | - | - | - | GRCh38 | - | 177 |
LOC130059839 | - | - | - | GRCh38 | - | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 9, 2017 | RCV000631042.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023