ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.8396A>G (p.Tyr2799Cys)

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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 RCV002468898 SCV002765124 uncertain significance Microcephaly 18, primary, autosomal dominant 2022-12-08 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3

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