ClinVar Miner

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

gnomAD frequency: 0.04760  dbSNP: rs41277200
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041933 SCV000065629 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041933 SCV000317214 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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 RCV000434576 SCV001156997 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV000434576 SCV001722032 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou 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)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041933 SCV002051057 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496668 SCV002809087 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2022-01-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888411 SCV004707922 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001273712 SCV001457082 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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