ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11390-24CT[7]

dbSNP: rs140003076
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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 RCV001489695 SCV001694245 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001489695 SCV001779507 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446775 SCV004173933 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446774 SCV004173934 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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