ClinVar Miner

Submissions for variant NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)

gnomAD frequency: 0.66794  dbSNP: rs3184504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667974 SCV001891065 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26553438, 28628107, 29547645, 21909115, 26621817, 18311140, 20546165, 23222517, 24777453, 19820697, 19198610, 17554260, 24026423, 24482502, 20560212)
Fulgent Genetics, Fulgent Genetics RCV002488461 SCV002795933 benign Primary familial polycythemia due to EPO receptor mutation; Thrombocythemia 1; Primary myelofibrosis 2022-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001667974 SCV004562829 benign not provided 2023-11-30 criteria provided, single submitter clinical testing

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