ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=)

gnomAD frequency: 0.00001  dbSNP: rs774191804
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116892 SCV002384937 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507971 SCV002808152 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456278 SCV004177667 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456279 SCV004177668 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458830 SCV004177669 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454006 SCV004177671 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003456278 SCV004815718 likely benign Malignant hyperthermia, susceptibility to, 5 2023-11-20 criteria provided, single submitter clinical testing

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