ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.285G>A (p.Leu95=)

gnomAD frequency: 0.00008  dbSNP: rs781799471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177052 SCV000228868 uncertain significance not provided 2015-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088097 SCV001008242 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2025-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818426 SCV002066978 likely benign not specified 2017-10-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001818426 SCV005726487 likely benign not specified 2024-11-12 criteria provided, single submitter clinical testing

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