ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15091C>T (p.Arg5031Trp) (rs56038610)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674670 SCV000800051 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041778 SCV000707025 benign not specified 2017-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000041778 SCV000169775 benign not specified 2014-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041778 SCV000065474 benign not specified 2013-03-07 criteria provided, single submitter clinical testing Arg5031Trp in exon 70 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (167/12839) of chromosomes fr om a broad population by the NHLBI Exome sequencing project (http://evs.gs.washi ngton.edu/EVS/; dbSNP rs56038610) and is reported as benign in Dreyer et al. 200 8.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087008 SCV000119261 not provided not provided no assertion provided not provided

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