ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3010-48G>A

gnomAD frequency: 0.70086  dbSNP: rs2593107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247389 SCV000315065 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829541 SCV000971271 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 RCV001533753 SCV001750542 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788183 SCV002029422 benign Autosomal recessive nonsyndromic hearing loss 23 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829541 SCV005322685 benign not provided criteria provided, single submitter not provided

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