ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp)

gnomAD frequency: 0.00001  dbSNP: rs768385119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518547 SCV000612625 uncertain significance not specified 2016-10-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147498 SCV003835335 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 9 2022-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147497 SCV003835336 uncertain significance Episodic ataxia type 5 2022-11-01 criteria provided, single submitter clinical testing

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