ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1948+13G>C

gnomAD frequency: 0.00012  dbSNP: rs538625530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311304 SCV000353070 uncertain significance Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355929 SCV000353071 uncertain significance Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000418638 SCV000531491 likely benign not specified 2016-09-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059419 SCV002458183 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-11 criteria provided, single submitter clinical testing

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