ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6486-18G>A

gnomAD frequency: 0.00118  dbSNP: rs370809079
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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 RCV001513646 SCV001721299 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001513646 SCV001883530 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001513646 SCV003800447 benign not provided 2022-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446794 SCV004172096 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446793 SCV004172097 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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