ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4082-66A>C

gnomAD frequency: 0.90510  dbSNP: rs386851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533664 SCV001750416 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001615255 SCV001838099 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615255 SCV005280604 benign not provided criteria provided, single submitter not provided

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