ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2259G>A (p.Pro753=)

gnomAD frequency: 0.00088  dbSNP: rs200971359
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519130 SCV001727941 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-08-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999449 SCV004819201 benign Malignant hyperthermia, susceptibility to, 5 2024-01-11 criteria provided, single submitter clinical testing

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