ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10740+7G>C

dbSNP: rs201206110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152581 SCV000201842 likely benign not specified 2013-06-05 criteria provided, single submitter clinical testing 10740+7G>C in Intron 54 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved region of the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001397657 SCV001599416 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445575 SCV004172014 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445574 SCV004172015 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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