ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro)

dbSNP: rs1753844425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252630 SCV001428391 likely pathogenic Microcephaly 18, primary, autosomal dominant 2019-01-01 no assertion criteria provided clinical testing

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