ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) (rs41303285)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041701 SCV000065397 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000041701 SCV000169762 benign not specified 2014-01-30 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 RCV000041701 SCV000707026 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993536 SCV001146595 benign not provided 2018-09-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282777 SCV001156940 benign none provided 2019-09-19 criteria provided, single submitter clinical testing
Invitae RCV000993536 SCV001719828 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271133 SCV001451985 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000993536 SCV001744667 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041701 SCV001953630 benign not specified no assertion criteria provided clinical testing

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