ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10183-12C>T

gnomAD frequency: 0.00002  dbSNP: rs747413632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550056 SCV001770327 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001550056 SCV002407196 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446823 SCV004172028 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446822 SCV004172029 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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