ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3263-16C>T

gnomAD frequency: 0.00543  dbSNP: rs74127837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733162 SCV001981723 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001733162 SCV002480848 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446880 SCV004172394 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001733162 SCV005258198 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003446880 SCV005875881 benign Developmental and epileptic encephalopathy, 69 2024-09-17 criteria provided, single submitter clinical testing

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