ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=)

gnomAD frequency: 0.00053  dbSNP: rs141808465
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV003454725 SCV004823459 likely benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456014 SCV004179095 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458360 SCV004179094 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454726 SCV004179093 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454725 SCV004179091 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651236 SCV000773087 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000243250 SCV000301798 likely benign not specified criteria provided, single submitter clinical testing

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