ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3667-4G>A

gnomAD frequency: 0.00001  dbSNP: rs762497596
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718892 SCV000719867 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063308 SCV002388398 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2021-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446203 SCV004173113 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446204 SCV004173114 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446205 SCV004173115 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446202 SCV004173116 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 RCV003446203 SCV004823395 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-13 criteria provided, single submitter clinical testing

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