ClinVar Miner

Submissions for variant NM_000069.2(CACNA1S):c.3811G>A (p.Ala1271Thr) (rs138144724)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000247953 SCV000713998 benign not specified 2017-03-21 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 RCV000358413 SCV000352985 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400430 SCV000352986 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556937 SCV000653702 benign Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 2018-01-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247953 SCV000301833 benign not specified criteria provided, single submitter clinical testing

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