ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys)

gnomAD frequency: 0.00344  dbSNP: rs74695054
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656156 SCV001864825 benign not provided 2021-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001656156 SCV002422272 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458741 SCV004179694 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001656156 SCV005074515 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CACNA1E: PP3, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001656156 SCV005282450 benign not provided criteria provided, single submitter not provided

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