ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.6820T>C (p.Ser2274Pro)

dbSNP: rs1737414565
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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 RCV001253647 SCV001429481 uncertain significance Microcephaly 18, primary, autosomal dominant 2018-07-03 criteria provided, single submitter clinical testing

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