ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.31C>T (p.Leu11Phe)

gnomAD frequency: 0.00001  dbSNP: rs139935489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809209 SCV002059677 uncertain significance DeSanto-Shinawi syndrome due to WAC point mutation 2018-07-06 criteria provided, single submitter clinical testing

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