ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1948+18G>A

gnomAD frequency: 0.00035  dbSNP: rs113175669
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241957 SCV000301809 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000241957 SCV000533667 likely benign not specified 2017-05-15 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 RCV002057281 SCV002465795 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445740 SCV004173250 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445741 SCV004173251 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445742 SCV004173252 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445739 SCV004173254 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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