ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.4097G>A (p.Arg1366His) (rs3801237)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656730 SCV000778313 uncertain significance Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2018-05-09 no assertion criteria provided clinical testing The observed variant c.4097G>A (p.Arg1366His) is reported in 1000 Genomes and ExAC with a minor allele frequency of 0.0004 and 0.0003 respectively. The in silico prediction of the variant is disease causing by MutationTaster2, damaging by SIFT, benign by PolyPhen2, and neutral by Provean.

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