ClinVar Miner

Submissions for variant NM_004933.3(CDH15):c.1023G>A (p.Ser341=)

gnomAD frequency: 0.15210  dbSNP: rs72819366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534848 SCV001751814 benign not provided 2019-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554478 SCV001775723 benign Intellectual disability, autosomal dominant 3 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116613 SCV000150577 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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