ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5812-11_5812-10del

gnomAD frequency: 0.00012  dbSNP: rs745976640
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001705271 SCV000289439 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001705271 SCV000567058 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001705271 SCV002009569 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818628 SCV002069433 likely benign not specified 2018-08-28 criteria provided, single submitter clinical testing

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