ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11390-55C>T

gnomAD frequency: 0.41199  dbSNP: rs4053764
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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 RCV001532783 SCV001748498 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001676029 SCV001892632 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676029 SCV005287620 benign not provided criteria provided, single submitter not provided

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