ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8558+40C>A

gnomAD frequency: 0.00762  dbSNP: rs55713064
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Total submissions: 5
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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 RCV000455971 SCV000540651 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency too high for disorder - 1.4% of European chromosomes in ExAC
Invitae RCV001513495 SCV001721122 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001513495 SCV001941376 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446063 SCV004172066 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446062 SCV004172068 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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