ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=)

gnomAD frequency: 0.00006  dbSNP: rs528604695
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541271 SCV000653666 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491094 SCV002797243 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-04-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451200 SCV004177891 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451201 SCV004177893 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458459 SCV004177894 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451199 SCV004177895 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003451200 SCV004824179 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing

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