ClinVar Miner

Submissions for variant NC_000023.11:g.48681722_48688043inv

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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 RCV000791262 SCV000930546 pathogenic Wiskott-Aldrich syndrome 2015-02-20 no assertion criteria provided clinical testing X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections

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