ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) (rs41303287)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 RCV001282662 SCV000605545 likely benign none provided 2020-04-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585540 SCV000692665 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000669397 SCV000794145 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-15 criteria provided, single submitter clinical testing
Invitae RCV000585540 SCV001115902 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000585540 SCV001477201 likely benign not provided 2020-07-24 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001273044 SCV001653373 likely benign Usher syndrome, type 2A 2021-05-18 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, 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
Human Genetics - Radboudumc,Radboudumc RCV000041873 SCV001960105 benign not specified no assertion criteria provided clinical testing

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