ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7301-6C>T (rs375499259)

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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, Partners HealthCare 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,; dbSNP rs375499259 ).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724816 SCV000229988 uncertain significance not provided 2015-05-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724816 SCV000891880 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000724816 SCV001055013 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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