ClinVar Genomic variation as it relates to human health
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
Germline
Classification
(2)
Uncertain significance
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 |
4165 | 5320 | |
ZNF276 | - | - |
GRCh38 GRCh37 |
52 | 875 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 27, 2022 | RCV002914224.2 | |
Uncertain significance (1) |
|
Sep 19, 2022 | RCV002914223.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024