ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1591-68G>A

gnomAD frequency: 0.07262  dbSNP: rs41274632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838462 SCV000980329 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001533758 SCV001750549 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838462 SCV005322703 benign not provided criteria provided, single submitter not provided

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