ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1205C>T (p.Pro402Leu)

gnomAD frequency: 0.00001  dbSNP: rs1557007283
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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 RCV001262560 SCV001440481 uncertain significance X-linked severe congenital neutropenia 2019-01-01 criteria provided, single submitter clinical testing

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