ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.2755A>C (p.Arg919=)

gnomAD frequency: 0.00202  dbSNP: rs151170797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116670 SCV000150634 likely benign not specified 2013-09-27 criteria provided, single submitter clinical testing
Invitae RCV000891243 SCV001035050 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000891243 SCV001763935 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891243 SCV004150685 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CEP135: BP4, BS2

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