ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.3862G>A (p.Val1288Ile)

dbSNP: rs1959395759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331361 SCV001523386 uncertain significance Dystonia 23 2020-01-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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