ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) (rs41308435)

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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 RCV000041776 SCV000065472 benign not specified 2010-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000041776 SCV000169774 benign not specified 2011-07-05 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 RCV000041776 SCV000232392 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285956 SCV001472469 benign none provided 2020-01-16 criteria provided, single submitter clinical testing
Invitae RCV001509629 SCV001716452 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276143 SCV001461995 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041776 SCV001954204 benign not specified no assertion criteria provided clinical testing

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