ClinVar Miner

Submissions for variant NM_000069.2(CACNA1S):c.2454G>A (p.Ala818=) (rs141619541)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000244670 SCV000527133 likely benign not specified 2018-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000286143 SCV000353044 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343319 SCV000353045 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541884 SCV000653669 benign Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244670 SCV000301818 likely benign not specified criteria provided, single submitter clinical testing

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