ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8681+120G>A

gnomAD frequency: 0.04758  dbSNP: rs56301415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939776 SCV001085627 benign not provided 2024-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000939776 SCV001916802 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446549 SCV004172062 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446548 SCV004172063 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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