ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) (rs45549044)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041750 SCV000065446 benign not specified 2011-09-25 criteria provided, single submitter clinical testing Gly4692Ar in Exon 64 of USH2A: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (53/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; rs45549044).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041750 SCV000231928 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000756882 SCV000515239 benign not provided 2018-07-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22004887, 25333064, 25262649, 24944099, 26927203, 19129697, 30245029, 32707200)
Counsyl RCV000669410 SCV000794159 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282576 SCV000884848 benign none provided 2019-09-11 criteria provided, single submitter clinical testing
Invitae RCV000756882 SCV001037459 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756882 SCV001146602 likely benign not provided 2019-05-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756882 SCV001246240 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001532872 SCV001748647 likely benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing

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