ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3811+10C>A

gnomAD frequency: 0.00004  dbSNP: rs769756794
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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 RCV000607658 SCV000731613 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing c.3811+10 C>A in intron 17 of USH2A: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 6/8584 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs769756794).
Invitae RCV000980072 SCV001128020 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446263 SCV004172158 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446262 SCV004172159 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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