ClinVar Genomic variation as it relates to human health
NM_020971.3(SPTBN4):c.1537G>A (p.Val513Ile)
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 | |||
SPTBN4 | - | - |
GRCh38 GRCh37 |
398 | 424 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SPTBN4-related disorder
|
Likely benign (1) |
|
Jun 8, 2023 | RCV003969869.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024