ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1482T>C (p.Tyr494=)

gnomAD frequency: 0.00001  dbSNP: rs1015357632
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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 RCV001410879 SCV001612934 likely benign not provided 2024-05-10 criteria provided, single submitter clinical testing
GeneDx RCV001410879 SCV001814786 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451723 SCV004182870 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451722 SCV004182871 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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