ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6189+41G>A

gnomAD frequency: 0.00901  dbSNP: rs7246682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837058 SCV000978908 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000837058 SCV005209529 likely benign not provided criteria provided, single submitter not provided

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