ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2854-11_2854-10del

dbSNP: rs780065077
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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 RCV001405133 SCV001607050 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-07-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004332 SCV004815946 likely benign Malignant hyperthermia, susceptibility to, 5 2023-05-08 criteria provided, single submitter clinical testing

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