ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2184+10T>C

gnomAD frequency: 0.00080  dbSNP: rs200889109
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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 RCV000155313 SCV000204999 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 2184+10T>C in Intron 20 of USH1C: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.3% (10/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS).
Invitae RCV000943311 SCV001089256 benign not provided 2020-07-23 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000155313 SCV001925191 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000943311 SCV001969808 likely benign not provided no assertion criteria provided clinical testing

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