ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) (rs62130681)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000415514 SCV000680162 pathogenic Epileptic encephalopathy, early infantile, 50 2017-09-08 criteria provided, single submitter clinical testing
OMIM RCV000415514 SCV000493914 pathogenic Epileptic encephalopathy, early infantile, 50 2020-11-11 no assertion criteria provided literature only

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