Submissions for variant NM_206933.4(USH2A):c.2109T>C (p.Asp703=)

gnomAD frequency: 0.01476  dbSNP: rs45555435

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041806	SCV000065502	benign	not specified	2009-07-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000041806	SCV000169734	benign	not specified	2011-08-25	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.
PreventionGenetics, part of Exact Sciences	RCV000041806	SCV000317198	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993540	SCV001146607	benign	not provided	2018-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097277	SCV001253540	likely 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001097278	SCV001253541	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000993540	SCV001732134	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001097278	SCV001750420	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000993540	SCV002562982	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000993540	SCV003799537	benign	not provided	2023-10-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000993540	SCV005263716	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001097278	SCV001452249	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+	RCV000041806	SCV001959335	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000993540	SCV001973100	likely benign	not provided		no assertion criteria provided	clinical testing