ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)

gnomAD frequency: 0.19146  dbSNP: rs11120616
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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 RCV000041698 SCV000065394 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041698 SCV000169760 benign not specified 2013-08-19 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 RCV000041698 SCV000317187 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000986520 SCV001135535 benign Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517697 SCV001726255 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986520 SCV001748496 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490581 SCV002804707 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041698 SCV003928753 likely benign not specified 2023-04-16 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887882 SCV004707861 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001517697 SCV005287618 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000986520 SCV001451988 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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