ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=)

gnomAD frequency: 0.00235  dbSNP: rs200603172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517346 SCV001725826 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517346 SCV002013397 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001517346 SCV004032991 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BP7, BS1, BS2
Genome-Nilou Lab RCV003458716 SCV004179576 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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