ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4023G>A (p.Glu1341=)

gnomAD frequency: 0.00002  dbSNP: rs753756026
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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 RCV002179394 SCV002332948 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-06-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011202 SCV004837498 likely benign Malignant hyperthermia, susceptibility to, 5 2023-10-06 criteria provided, single submitter clinical testing

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