ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter)

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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 RCV003992116 SCV004812061 likely pathogenic Microcephaly 18, primary, autosomal dominant 2021-09-23 criteria provided, single submitter clinical testing

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