ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.3027G>T (p.Thr1009=)

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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 RCV003060425 SCV003447848 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-08-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009321 SCV004819687 likely benign Malignant hyperthermia, susceptibility to, 5 2023-03-09 criteria provided, single submitter clinical testing

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