ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002475064 SCV002771229 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing
GeneDx RCV002475064 SCV003923668 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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