ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly)

dbSNP: rs79011683
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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 RCV000348547 SCV000352962 benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398683 SCV000352963 benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415708 SCV000493716 uncertain significance Malignant hyperthermia, susceptibility to, 5 2015-12-04 no assertion criteria provided clinical testing

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