ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.749A>G (p.Asn250Ser)

dbSNP: rs1353660689
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Total submissions: 3
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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 RCV001253679 SCV001429522 uncertain significance Microcephaly 18, primary, autosomal dominant 2017-09-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001780203 SCV002026168 likely pathogenic Neurodevelopmental delay 2019-07-20 criteria provided, single submitter clinical testing
GeneDx RCV003166578 SCV003915044 likely pathogenic not provided 2023-04-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31327001)

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