ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)

gnomAD frequency: 0.10108  dbSNP: rs56222536
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Total submissions: 8
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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 RCV000041851 SCV000065547 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041851 SCV000169743 benign not specified 2013-01-07 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.
PreventionGenetics, part of Exact Sciences RCV000041851 SCV000317205 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513476 SCV001721095 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276254 SCV001750327 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887907 SCV004708001 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001513476 SCV005280593 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276254 SCV001462262 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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