ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) (rs41277200)

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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 RCV000041933 SCV000065629 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041933 SCV000317214 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041933 SCV000336220 benign not specified 2015-10-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434576 SCV000511020 benign not provided 2016-07-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282327 SCV001156997 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV000434576 SCV001722032 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001273712 SCV001750318 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000434576 SCV001941381 benign not provided 2019-01-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19737284, 21569298, 25528277, 17085681, 18273898, 30245029)
Natera, Inc. RCV001273712 SCV001457082 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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