ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11389+14del

dbSNP: rs79494833
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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 RCV001512984 SCV001720501 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001512984 SCV001941384 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446790 SCV004173937 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446789 SCV004173938 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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