ClinVar Genomic variation as it relates to human health
NM_001447.3(FAT2):c.12902G>A (p.Arg4301His)
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 | |||
FAT2 | - | - |
GRCh38 GRCh37 |
290 | 1090 | |
SLC36A1 | - | - |
GRCh38 GRCh37 |
29 | 838 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 3, 2023 | RCV003095643.2 | |
Uncertain significance (1) |
|
Oct 27, 2023 | RCV004073293.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024