ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)

dbSNP: rs553593355
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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 RCV001228544 SCV001400945 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480751 SCV002789697 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-12-07 criteria provided, single submitter clinical testing

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