ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)

dbSNP: rs866536893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814808 SCV002061635 likely pathogenic Microcephaly 18, primary, autosomal dominant 2021-10-14 criteria provided, single submitter clinical testing PVS1, PM2

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