ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)

gnomAD frequency: 0.17214  dbSNP: rs2820718
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041709 SCV000065405 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041709 SCV000169765 benign not specified 2011-07-13 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.
Eurofins Ntd Llc (ga) RCV000041709 SCV000231868 benign not specified 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041709 SCV000317191 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001514998 SCV000605538 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514998 SCV001722978 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271129 SCV001748493 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887886 SCV004707855 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001514998 SCV005287613 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271129 SCV001451980 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041709 SCV001959824 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041709 SCV001965746 benign not specified no assertion criteria provided clinical testing

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