ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.273+14C>T

gnomAD frequency: 0.00006  dbSNP: rs782249573
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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 RCV002207205 SCV002369795 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002207205 SCV002802343 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2021-12-23 criteria provided, single submitter clinical testing

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