ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs)

dbSNP: rs2144501188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768793 SCV001993524 uncertain significance not provided 2019-05-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein extension as the last 28 amino acids are lost and replaced with 31 incorrect amino acids; Has not been previously published as pathogenic or benign to our knowledge

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