ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.785-16_785-15del

gnomAD frequency: 0.00051  dbSNP: rs150209313
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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 RCV000213860 SCV000269951 benign not specified 2015-05-05 criteria provided, single submitter clinical testing c.785-16_785-15delAT in intron 4 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.6% (134/8536) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs150209313).
Labcorp Genetics (formerly Invitae), Labcorp RCV001520245 SCV001729306 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445696 SCV004172218 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445695 SCV004172219 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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