ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) (rs10864219)

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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, Partners HealthCare Personalized Medicine RCV000041888 SCV000065584 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041888 SCV000169746 benign not specified 2013-08-22 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041888 SCV000229757 benign not specified 2014-06-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041888 SCV000317209 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281880 SCV000884838 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Mendelics RCV000986530 SCV001135547 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001515000 SCV001722981 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000986530 SCV001750324 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986530 SCV001458134 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041888 SCV001740099 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041888 SCV001952038 benign not specified no assertion criteria provided clinical testing

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