ClinVar Genomic variation as it relates to human health
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 |
4066 | 5186 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 25, 2023 | RCV002790014.1 | |
Pathogenic (1) |
|
Jan 17, 2023 | RCV003635998.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024