ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.92-493A>T

gnomAD frequency: 0.00828  dbSNP: rs77290854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513721 SCV000610711 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513721 SCV001159546 benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513721 SCV005220781 likely benign not provided criteria provided, single submitter not provided

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