ClinVar Miner

Submissions for variant NM_004933.3(CDH15):c.274C>T (p.Arg92Trp)

gnomAD frequency: 0.00011  dbSNP: rs121434540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502940 SCV000593926 uncertain significance not specified 2016-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000019210 SCV000896575 uncertain significance Intellectual disability, autosomal dominant 3 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000019210 SCV000039498 pathogenic Intellectual disability, autosomal dominant 3 2008-12-01 no assertion criteria provided literature only

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