ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10741-8G>A

gnomAD frequency: 0.00051  dbSNP: rs369968349
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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 RCV000961347 SCV001108389 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000961347 SCV001942653 likely benign not provided 2019-06-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000961347 SCV004125599 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing USH2A: BP4
Genome-Nilou Lab RCV003446557 SCV004172012 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274948 SCV004172013 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274948 SCV001459532 uncertain significance Usher syndrome type 2A 2020-01-10 no assertion criteria provided clinical testing

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