ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His)

gnomAD frequency: 0.00001  dbSNP: rs142991283
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244906 SCV001418159 uncertain significance Wiskott-Aldrich syndrome 2 2021-08-24 criteria provided, single submitter clinical testing

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