ClinVar Genomic variation as it relates to human health
NM_005475.3(SH2B3):c.733-11835T>C
Germline
Classification
(2)
Benign/Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
SH2B3 | - | - |
GRCh38 GRCh37 |
86 | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 27, 2023 | RCV003736358.1 | |
SH2B3-related disorder
|
Benign (1) |
|
Aug 19, 2019 | RCV003919379.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024