ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)

gnomAD frequency: 0.00220  dbSNP: rs58461416
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039751 SCV000063440 benign not specified 2010-07-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039751 SCV000229676 benign not specified 2015-04-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405593 SCV000363122 benign Usher syndrome type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000039751 SCV000714181 benign not specified 2017-09-20 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 RCV000879272 SCV001022293 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039751 SCV001476724 benign not specified 2019-10-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000879272 SCV003800472 benign not provided 2022-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274781 SCV001459206 benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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