ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2869-109T>C

gnomAD frequency: 0.77156  dbSNP: rs2456699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838469 SCV000980336 benign not provided 2018-06-14 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 RCV001533754 SCV001750543 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing

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