ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4242-5C>T

gnomAD frequency: 0.00002  dbSNP: rs749316339
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001497882 SCV001702619 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-09-22 criteria provided, single submitter clinical testing
GeneDx RCV002272474 SCV002558389 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446777 SCV004173037 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446778 SCV004173038 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446779 SCV004173039 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446776 SCV004173040 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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