Submissions for variant NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)

gnomAD frequency: 0.00234  dbSNP: rs148000219

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041844	SCV000065540	benign	not specified	2014-01-30	criteria provided, single submitter	clinical testing	Ile1520Ile in Exon 21A of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (27/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs148000219).
Eurofins Ntd Llc (ga)	RCV000724966	SCV000332785	uncertain significance	not provided	2015-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724966	SCV001096351	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000724966	SCV001146613	benign	not provided	2019-03-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001102384	SCV001259054	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	RCV001102385	SCV001259055	uncertain significance	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 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724966	SCV001471894	benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001102385	SCV001653443	likely benign	Usher syndrome type 2A	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000724966	SCV001891717	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724966	SCV004009936	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7, BS2
Natera, Inc.	RCV001102385	SCV001459754	likely benign	Usher syndrome type 2A	2019-12-31	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000724966	SCV001926151	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041844	SCV001951316	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724966	SCV001973904	likely benign	not provided		no assertion criteria provided	clinical testing