ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1883+9C>G

gnomAD frequency: 0.00001  dbSNP: rs1488129029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247882 SCV002517168 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093978 SCV003347856 likely benign not provided 2022-07-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445153 SCV004172391 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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