ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=)

dbSNP: rs146497999
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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 RCV000869377 SCV001010799 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501294 SCV002804808 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 RCV003453796 SCV004177760 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453797 SCV004177761 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458563 SCV004177762 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453795 SCV004177763 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 RCV003453796 SCV004830831 likely benign Malignant hyperthermia, susceptibility to, 5 2024-01-11 criteria provided, single submitter clinical testing

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