ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1337_1338+9del

dbSNP: rs1602179810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital RCV000791260 SCV000930544 pathogenic Wiskott-Aldrich syndrome 2015-09-23 no assertion criteria provided clinical testing X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections

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