ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.470G>A (p.Arg157His)

dbSNP: rs369850591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494685 SCV001699347 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2025-01-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820197 SCV002068415 likely benign not specified 2018-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001494685 SCV002798903 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681207 SCV005176984 likely benign Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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