ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.912C>T (p.Ala304=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005220795 SCV005868253 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921765 SCV004733046 likely benign CACNA1S-related disorder 2023-03-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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