ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8559-7G>A

gnomAD frequency: 0.00085  dbSNP: rs199618999
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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 RCV000152593 SCV000201867 likely benign not specified 2014-09-09 criteria provided, single submitter clinical testing c.8559-7G>A in intron 42 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.3% (31/10340) of African chrom osomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; dbSN P rs199618999).
Eurofins Ntd Llc (ga) RCV000727256 SCV000707021 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727256 SCV001732747 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276967 SCV001463660 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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