ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5625+279C>T

gnomAD frequency: 0.14311  dbSNP: rs3786935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827735 SCV000969395 benign not provided 2018-06-19 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.

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