ClinVar Genomic variation as it relates to human health
NM_001141917.2(SPATA31F1):c.3194C>T (p.Ala1065Val)
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 | |||
PHF24 | - | - |
GRCh38 GRCh37 |
27 | 223 | |
SPATA31F1 | - | - | - |
GRCh38 GRCh37 |
- | 178 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 20, 2023 | RCV004299915.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024