Submissions for variant NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)

gnomAD frequency: 0.00356  dbSNP: rs41303287

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041873	SCV000065569	benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	Tyr1992Cys in exon 30 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (30/7020) of European American chromosomes and 0.2% (9/3738) of African American chromosomes in a broad popula tion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; d bSNP rs41303287).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000041873	SCV000258290	uncertain significance	not specified	2015-02-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041873	SCV000344344	likely benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000585540	SCV000515233	benign	not provided	2018-10-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28653555, 32707200, 22004887, 20507924, 25333064, 26164827, 25262649, 22681893, 30245029)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000585540	SCV000605545	likely benign	not provided	2021-02-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585540	SCV000692665	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS2
Counsyl	RCV000669397	SCV000794145	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000585540	SCV001115902	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000585540	SCV001477201	likely benign	not provided	2020-07-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273044	SCV001653373	likely benign	Usher syndrome type 2A	2021-05-18	criteria provided, single submitter	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787924	SCV000926943	uncertain significance	Progressive cone dystrophy (without rod involvement)	2018-04-01	no assertion criteria provided	research
Natera, Inc.	RCV001273044	SCV001455627	likely benign	Usher syndrome type 2A	2019-12-30	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000585540	SCV001917967	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041873	SCV001960105	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585540	SCV001973631	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537154	SCV004721424	likely benign	USH2A-related disorder	2022-12-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).