ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)

gnomAD frequency: 0.00004  dbSNP: rs186538122
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071065 SCV001236349 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489712 SCV002782515 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455302 SCV004180241 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455303 SCV004180243 uncertain significance Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458616 SCV004180244 uncertain significance Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455301 SCV004180245 uncertain significance Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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