ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=)

dbSNP: rs761794209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393364 SCV000352960 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293681 SCV000352961 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing

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