ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4367+88A>G

gnomAD frequency: 0.00811  dbSNP: rs45466098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835225 SCV000977012 likely 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 RCV001533686 SCV001750454 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835225 SCV005220764 likely benign not provided criteria provided, single submitter not provided

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