ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.873C>T (p.Tyr291=)

gnomAD frequency: 0.00029  dbSNP: rs149123892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249500 SCV000303903 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000543825 SCV000629753 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-12-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249500 SCV002069929 likely benign not specified 2022-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000543825 SCV002805938 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2021-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230190 SCV005876990 benign not provided 2024-07-08 criteria provided, single submitter clinical testing

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