ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.705+93C>T

gnomAD frequency: 0.73456  dbSNP: rs857395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533762 SCV001750557 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001713111 SCV001939550 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713111 SCV005322723 benign not provided criteria provided, single submitter not provided

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