ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11390-53C>T

gnomAD frequency: 0.07479  dbSNP: rs6540907
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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 RCV001532782 SCV001748497 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001619940 SCV001847036 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619940 SCV005287619 benign not provided criteria provided, single submitter not provided

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