ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2519-2del

dbSNP: rs754453916
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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 RCV000862677 SCV001003213 benign Primary dilated cardiomyopathy 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001529768 SCV001861947 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529768 SCV001743818 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529768 SCV001964824 likely benign not provided no assertion criteria provided clinical testing

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