Submissions for variant NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)

gnomAD frequency: 0.00424  dbSNP: rs111033481

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041814	SCV000065510	benign	not specified	2011-07-07	criteria provided, single submitter	clinical testing	Cys849Tyr in exon 13 of USH2A: This variant is not expected to have clinical sig nificance because it has been identified in over 1% of controls (rs111033481).
Eurofins Ntd Llc (ga)	RCV000041814	SCV000343168	benign	not specified	2016-07-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000946559	SCV001092703	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000986544	SCV001135562	benign	Usher syndrome type 2A	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098935	SCV001255337	uncertain significance	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 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.
Illumina Laboratory Services, Illumina	RCV000986544	SCV001257282	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000946559	SCV001842313	benign	not provided	2019-05-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30245029, 26969326, 24944099)
CeGaT Center for Human Genetics Tuebingen	RCV000946559	SCV004125623	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	USH2A: BS1, BS2
Natera, Inc.	RCV000986544	SCV001459766	benign	Usher syndrome type 2A	2020-01-14	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000946559	SCV001917721	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000946559	SCV001963648	likely benign	not provided		no assertion criteria provided	clinical testing