ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.912G>A (p.Arg304=)

gnomAD frequency: 0.00003  dbSNP: rs782572275
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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 RCV001512949 SCV001720452 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2023-04-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438853 SCV004166223 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing WAS: BP4, BP7, BS2

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