ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1052del (p.Pro351fs)

dbSNP: rs2147266405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706762 SCV001934237 likely pathogenic Wiskott-Aldrich syndrome 2020-10-14 criteria provided, single submitter clinical testing

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