ClinVar Genomic variation as it relates to human health
NM_001122681.2(SH3BP2):c.-4-8148C>T
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 | |||
LOC106804089 | - | - | - | GRCh38 | - | 61 |
SH3BP2 | - | - |
GRCh38 GRCh37 |
731 | 865 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SH3BP2-related disorder
|
Likely benign (1) |
|
May 10, 2022 | RCV003979535.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024