ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)

gnomAD frequency: 0.00010  dbSNP: rs200334886
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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 RCV001307461 SCV001496874 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499584 SCV002814076 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-07-08 criteria provided, single submitter clinical testing

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