ClinVar Miner

Submissions for variant NM_000069.2(CACNA1S):c.-231A>G

gnomAD frequency: 0.28191  dbSNP: rs4506487
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000266662 SCV000482994 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324180 SCV000482995 benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000839815 SCV000981722 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV003445915 SCV004173702 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445916 SCV004173703 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445917 SCV004173704 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445914 SCV004173705 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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