ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)

gnomAD frequency: 0.00275  dbSNP: rs145207584
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Total submissions: 10
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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 RCV000041682 SCV000065378 benign not specified 2011-10-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000041682 SCV000231378 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972214 SCV001119911 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041682 SCV001160348 likely benign not specified 2018-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000972214 SCV001780280 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25097241, 26969326)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041682 SCV002547768 benign not specified 2022-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450744 SCV004182163 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274946 SCV004182164 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972214 SCV005261751 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274946 SCV001459529 benign Usher syndrome type 2A 2020-05-03 no assertion criteria provided clinical testing

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