ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)

gnomAD frequency: 0.00036  dbSNP: rs145742052
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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 RCV000895530 SCV001039575 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000895530 SCV001814704 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454933 SCV004181771 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001830954 SCV004181772 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830954 SCV002091563 likely benign Usher syndrome type 2A 2020-02-02 no assertion criteria provided clinical testing

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