ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) (rs56038610)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 (; dbSNP rs56038610) and is reported as benign in Dreyer et al. 200 8.
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041778 SCV000707025 benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Counsyl RCV000674670 SCV000800051 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000087008 SCV001146604 benign not provided 2018-09-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041778 SCV001156939 benign not specified 2019-01-11 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087008 SCV000119261 not provided not provided no assertion provided not provided

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