ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4882-6_4882-4del

dbSNP: rs560116244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518894 SCV001727670 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001518894 SCV001833701 benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476820 SCV002803261 likely benign Developmental and epileptic encephalopathy, 69 2021-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001518894 SCV004123907 benign not provided 2024-06-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BS1, BS2
Genome-Nilou Lab RCV002476820 SCV004172406 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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