ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.413G>A (p.Arg138Gln)

gnomAD frequency: 0.00073  dbSNP: rs139265251
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862741 SCV001003288 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-01-31 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001261849 SCV001439182 uncertain significance Wiskott-Aldrich syndrome 2020-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436938 SCV004166221 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing WAS: BS2
ITMI RCV000122269 SCV000086494 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004748589 SCV005345739 likely benign WAS-related disorder 2024-06-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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