ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9258+15T>C

gnomAD frequency: 0.00047  dbSNP: rs181894778
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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 RCV000152587 SCV000201854 likely benign not specified 2013-10-11 criteria provided, single submitter clinical testing 9258+15T>C in Intron 46 of USH2A: This variant is not expected to have clinical significance because it is not located in the splice consensus sequence and was detected in 1% (4/394) Chinese chromosomes screened by the 1000 Genomes Project (http://www.1000genomes.org; dbSNP rs181894778).
Invitae RCV001513499 SCV001721126 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445577 SCV004172043 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445576 SCV004172046 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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