ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.5242C>T (p.Arg1748Ter)

dbSNP: rs1322001449
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Total submissions: 2
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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 RCV001785285 SCV002026232 likely pathogenic Neurodevelopmental delay 2019-07-26 criteria provided, single submitter research
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003326158 SCV004032504 uncertain significance Microcephaly 18, primary, autosomal dominant 2023-05-19 criteria provided, single submitter clinical testing

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