ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4242-4G>A

gnomAD frequency: 0.00001  dbSNP: rs780264366
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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 RCV002070137 SCV002391686 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504473 SCV002811961 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-09-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446698 SCV004173033 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446699 SCV004173034 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446700 SCV004173035 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446697 SCV004173036 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 RCV003446698 SCV004826768 likely benign Malignant hyperthermia, susceptibility to, 5 2023-11-30 criteria provided, single submitter clinical testing

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