ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) (rs397517465)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039752 SCV000063441 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing p.Ala1763_Pro1764del in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.8% (18/2306) of East A sian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs397517465). This variant leads to a two codon in-frame delet ion located in the last exon of the gene; however, one study suggests that exon 33 is more tolerant of variation, including truncating variants (Perrault-Micale 2014).
Illumina Clinical Services Laboratory,Illumina RCV000315573 SCV000363120 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363120 SCV000363121 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039752 SCV000604607 likely benign not specified 2019-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000039752 SCV000729390 likely benign not specified 2018-01-24 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.
Invitae RCV000910500 SCV001055370 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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