ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) (rs11120616)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics 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
Invitae RCV001517697 SCV001726255 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000986520 SCV001748496 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986520 SCV001451988 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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