ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) (rs191736346)

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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 RCV000039765 SCV000063454 benign not specified 2017-01-13 criteria provided, single submitter clinical testing Thr1868Met in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (132/8652) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs191736346).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039765 SCV000114273 benign not specified 2015-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000039765 SCV000731169 likely benign not specified 2017-03-27 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 RCV000909077 SCV001053867 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039765 SCV001159896 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104784 SCV001261671 uncertain significance Usher syndrome type 1 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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