ClinVar Genomic variation as it relates to human health
NM_004208.4(AIFM1):c.50T>C (p.Val17Ala)
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 | |||
AIFM1 | - | - |
GRCh38 GRCh37 |
4 | 657 | |
LOC130068679 | - | - | - | GRCh38 | - | 119 |
RAB33A | - | - |
GRCh38 GRCh37 |
9 | 660 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 10, 2023 | RCV003321114.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023