ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.594+232A>G

gnomAD frequency: 0.26148  dbSNP: rs2153822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533581 SCV001750248 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001712977 SCV001940974 benign not provided 2018-07-07 criteria provided, single submitter clinical testing

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