ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=)

gnomAD frequency: 0.00072  dbSNP: rs375018770
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001638219 SCV001849775 benign not provided 2021-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001638219 SCV002473315 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001638219 SCV004123895 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BP7
Genome-Nilou Lab RCV003458733 SCV004179618 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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