ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=)

gnomAD frequency: 0.00002  dbSNP: rs1051111849
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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 RCV001405023 SCV001606934 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499865 SCV002807332 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456226 SCV004179146 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456227 SCV004179148 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458701 SCV004179149 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451714 SCV004179150 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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