ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)

gnomAD frequency: 0.00354  dbSNP: rs77211159
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Total submissions: 11
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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 RCV000041767 SCV000065463 benign not specified 2010-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000041767 SCV000169773 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.
Eurofins Ntd Llc (ga) RCV000041767 SCV000231957 benign not specified 2016-08-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509630 SCV001472470 benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509630 SCV001716453 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496662 SCV002795416 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450796 SCV004183047 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276147 SCV004183048 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887900 SCV004707209 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001509630 SCV005287594 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276147 SCV001462000 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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