Submissions for variant NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)

gnomAD frequency: 0.22399  dbSNP: rs2135720

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039715	SCV000063404	benign	not specified	2009-06-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039715	SCV000315064	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350263	SCV000363181	benign	Usher syndrome type 1	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522645	SCV001732230	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001274793	SCV001750545	benign	Usher syndrome type 1F	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001522645	SCV001900463	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001522645	SCV005322689	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001274793	SCV001459219	benign	Usher syndrome type 1F	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039715	SCV001740749	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039715	SCV001955710	benign	not specified		no assertion criteria provided	clinical testing