ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3374-4C>T (rs111739360)

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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 RCV000039725 SCV000063414 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 3374-4C>T in Intron 25 of PCDH15: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 6.2% (231/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs111739360).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000039725 SCV000257803 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039725 SCV000315067 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000039725 SCV000514045 benign not specified 2016-10-10 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 RCV000956827 SCV001103614 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001108250 SCV001265464 benign Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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