ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)

gnomAD frequency: 0.33929  dbSNP: rs2797234
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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 RCV000041726 SCV000065422 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041726 SCV000169768 benign not specified 2011-07-18 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) RCV000041726 SCV000231909 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041726 SCV000317192 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001511032 SCV000884831 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511032 SCV001718206 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271123 SCV001748491 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041726 SCV003928754 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887889 SCV004707263 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001511032 SCV005287605 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271123 SCV001451974 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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