ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) (rs61635304)

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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 RCV000041706 SCV000065402 benign not specified 2009-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000041706 SCV000169764 benign not specified 2011-08-12 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 RCV000041706 SCV000317190 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714157 SCV000844840 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282196 SCV001156874 benign none provided 2019-10-21 criteria provided, single submitter clinical testing
Invitae RCV000714157 SCV001725647 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271130 SCV001451981 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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