ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.995T>C (p.Val332Ala)

gnomAD frequency: 0.00489  dbSNP: rs2737799
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000122265 SCV000303904 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000122265 SCV000333112 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122265 SCV000597933 benign not specified 2019-06-11 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513811 SCV000609774 benign not provided 2017-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083623 SCV000754530 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000513811 SCV001771515 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27153395, 17400488, 22995991, 24728327, 24369837, 23689198)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002243788 SCV004016219 benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513811 SCV005209328 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513811 SCV005878800 likely benign not provided 2024-10-30 criteria provided, single submitter clinical testing
ITMI RCV000122265 SCV000086490 not provided not specified 2013-09-19 no assertion provided reference population
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243788 SCV002515524 uncertain significance Wiskott-Aldrich syndrome no assertion criteria provided research

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