ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9959-11T>G

gnomAD frequency: 0.00724  dbSNP: rs116150014
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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 RCV000041962 SCV000065658 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 9959-11T>G in Intron 50 of USH2A: This variant is not expected to have clinical significance because it has been identified in 2.1% (80/3734) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs116150014).
GeneDx RCV001519797 SCV000730475 benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519797 SCV001728730 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445132 SCV004172032 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445131 SCV004172034 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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