ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.533C>T (p.Pro178Leu)

dbSNP: rs2062419034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324243 SCV001515189 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2021-08-27 criteria provided, single submitter clinical testing
Mendelics RCV002246298 SCV002516167 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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