ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.652-80T>C

gnomAD frequency: 0.05185  dbSNP: rs45594833
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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 RCV001523595 SCV001733324 benign not provided 2024-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533668 SCV001750425 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001523595 SCV001940506 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523595 SCV005280618 benign not provided criteria provided, single submitter not provided

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