ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1735-6T>C

gnomAD frequency: 0.00084  dbSNP: rs111772206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611709 SCV000722353 likely benign not specified 2017-08-23 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.
Invitae RCV001522606 SCV001732181 benign Brugada syndrome 2021-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935677 SCV004755103 likely benign CACNA2D1-related condition 2019-07-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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