ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2491-20C>T

gnomAD frequency: 0.00006  dbSNP: rs200340608
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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 RCV002125324 SCV002446008 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486939 SCV002795782 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447049 SCV004173211 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447050 SCV004173212 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447051 SCV004173213 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447048 SCV004173214 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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