Submissions for variant NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)

gnomAD frequency: 0.01136  dbSNP: rs41303257

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041836	SCV000065532	benign	not specified	2010-10-06	criteria provided, single submitter	clinical testing	Asn1315Asn in exon 18 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is found at an equal frequency in probands and controls (W eston 2000, Leroy 2001, Pennings 2004).
GeneDx	RCV000041836	SCV000169738	benign	not specified	2011-08-02	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.
Athena Diagnostics Inc	RCV000993542	SCV001146612	benign	not provided	2019-01-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000993542	SCV001157167	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100533	SCV001257058	benign	Retinitis pigmentosa	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.
Illumina Laboratory Services, Illumina	RCV001100534	SCV001257059	benign	Usher syndrome type 2A	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae	RCV000993542	SCV001721186	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001100534	SCV001750417	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001100534	SCV001462272	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041836	SCV001953501	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000993542	SCV001968428	likely benign	not provided		no assertion criteria provided	clinical testing