ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.348T>A (p.His116Gln)

dbSNP: rs1482410266
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000594318 SCV000709731 uncertain significance not specified 2018-03-01 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: not in Gnomad with good coverage, not in ClinVar, HGMD, or Google search; well- conserved, predicted possibly damaging

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