ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2167+17A>G

gnomAD frequency: 0.00129  dbSNP: rs181777364
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943179 SCV001089120 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001654 SCV001159178 benign not specified 2019-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000943179 SCV001828627 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446551 SCV004172183 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446550 SCV004172184 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000943179 SCV005280612 benign not provided criteria provided, single submitter not provided

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