ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7121-14del

dbSNP: rs536181325
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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 RCV000221414 SCV000269950 benign not specified 2015-08-12 criteria provided, single submitter clinical testing c.7121-14delT in intron 37 of USH2A: This variant is not expected to have clinic al significance because it has been identified in 0.88% (65/7394) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs536181325).
Labcorp Genetics (formerly Invitae), Labcorp RCV002057099 SCV002402848 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445694 SCV004172084 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445693 SCV004172085 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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