ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3610-17G>A

gnomAD frequency: 0.00003  dbSNP: rs368357562
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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 RCV002104890 SCV002387075 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479900 SCV002804217 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-05-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447013 SCV004173122 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447014 SCV004173123 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447015 SCV004173124 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447012 SCV004173125 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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