ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.177G>A (p.Pro59=)

gnomAD frequency: 0.00001  dbSNP: rs552093496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314801 SCV000417253 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369450 SCV000417254 likely benign Hereditary episodic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710851 SCV005256360 likely benign not provided criteria provided, single submitter not provided

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