ClinVar Genomic variation as it relates to human health
NM_014967.5(FAN1):c.2245C>G (p.Arg749Gly)
Germline
Classification
(1)
Uncertain significance
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 | |||
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
165 | 558 | |
MTMR10 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
23 | 417 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
FAN1-related disorder
|
Uncertain significance (1) |
|
Dec 22, 2022 | RCV003403013.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024