ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5120C>T (p.Pro1707Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003784957 SCV004576154 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-07 criteria provided, single submitter clinical testing

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