ClinVar Genomic variation as it relates to human health
NM_005850.5(SF3B4):c.1203C>G (p.Leu401=)
Germline
Classification
(1)
Likely benign
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 | |||
SF3B4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
108 | 127 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SF3B4-related disorder
|
Likely benign (1) |
|
Sep 1, 2021 | RCV003894005.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024