ClinVar Miner

Submissions for variant NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter)

dbSNP: rs1556620706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660265 SCV000782289 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency 2016-11-01 criteria provided, single submitter clinical testing
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV000660265 SCV004801966 pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency no assertion criteria provided clinical testing

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