ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)

gnomAD frequency: 0.03107  dbSNP: rs12118814
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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 RCV000041932 SCV000065628 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041932 SCV000317213 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993543 SCV001146621 benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993543 SCV001716545 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000993543 SCV001941379 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450904 SCV004182787 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273713 SCV004182788 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888410 SCV004707923 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000993543 SCV005287651 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273713 SCV001457083 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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