ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4543+15G>A

gnomAD frequency: 0.00003  dbSNP: rs746717103
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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 RCV002105002 SCV002391838 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494210 SCV002797770 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-09-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447017 SCV004173004 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447018 SCV004173005 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447019 SCV004173006 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447016 SCV004173007 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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