ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7301-6C>T

gnomAD frequency: 0.00054  dbSNP: rs375499259
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Total submissions: 9
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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 RCV000041906 SCV000065602 likely benign not specified 2015-12-05 criteria provided, single submitter clinical testing 7301-6C>T in intron 38 of USH2A: This variant is not expected to have clinical significance because it is not predicted to impact the splice consensus sequence . This variant has been identified in 53/66482 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375499259 ).
Eurofins Ntd Llc (ga) RCV000724816 SCV000229988 uncertain significance not provided 2015-05-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724816 SCV000891880 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing USH2A: PM2, BP4
Invitae RCV000724816 SCV001055013 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001271985 SCV001528863 uncertain significance Usher syndrome type 2A 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000724816 SCV001841963 likely benign not provided 2021-07-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271985 SCV001453613 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000724816 SCV001798642 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724816 SCV001973469 likely benign not provided no assertion criteria provided clinical testing

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