ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=)

gnomAD frequency: 0.00003  dbSNP: rs751043315
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651233 SCV000773084 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499118 SCV002809112 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451560 SCV004177778 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451561 SCV004177779 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458487 SCV004177780 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456116 SCV004177782 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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