ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5857+17A>C

gnomAD frequency: 0.01694  dbSNP: rs74766738
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241906 SCV000317208 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001519719 SCV001477522 benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519719 SCV001728639 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519719 SCV001757458 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445824 SCV004172112 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445823 SCV004172113 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519719 SCV005280588 benign not provided criteria provided, single submitter not provided

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