ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7301-65C>T

gnomAD frequency: 0.01115  dbSNP: rs41277204
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513128 SCV001720675 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001513128 SCV001941382 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446792 SCV004172081 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446791 SCV004172082 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513128 SCV005280570 benign not provided criteria provided, single submitter not provided

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