ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2751+37C>T

gnomAD frequency: 0.59606  dbSNP: rs3812658
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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 RCV000246098 SCV000315062 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829540 SCV000971270 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 RCV001788181 SCV002029424 benign Usher syndrome type 1F 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788182 SCV002029425 benign Autosomal recessive nonsyndromic hearing loss 23 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829540 SCV005322692 benign not provided criteria provided, single submitter not provided

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