ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser)

gnomAD frequency: 0.02916  dbSNP: rs41304253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653055 SCV001871177 likely benign not provided 2022-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653055 SCV002366502 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458744 SCV004179621 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653055 SCV005258194 likely benign not provided criteria provided, single submitter not provided

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