ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1053A>C (p.Pro351=)

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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 RCV003805477 SCV004593136 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004810545 SCV005436317 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing WAS: BP4, BP7

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