ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.1021-9T>C

gnomAD frequency: 0.00001  dbSNP: rs1291994687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463606 SCV001667553 likely benign Idiopathic generalized epilepsy 2018-11-01 criteria provided, single submitter clinical testing

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