ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.695-6del

dbSNP: rs748832613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000303966 SCV000353156 uncertain significance Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363318 SCV000353157 uncertain significance Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471427 SCV001675531 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-05-21 criteria provided, single submitter clinical testing

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