ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)

gnomAD frequency: 0.00003  dbSNP: rs146903750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002995961 SCV003295773 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010857 SCV005637782 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-01-31 criteria provided, single submitter clinical testing

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