ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) (rs114137983)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039759 SCV000063448 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro1805Leu in Exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (23/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs114137983).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039759 SCV000203201 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000039759 SCV000729391 likely benign not specified 2017-12-08 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 RCV000971054 SCV001118670 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105923 SCV001262938 uncertain significance 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 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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