ClinVar Miner

Submissions for variant NM_000069.2(CACNA1S):c.2601C>T (p.Tyr867=) (rs34374418)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610355 SCV000722805 likely benign not specified 2017-09-20 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 RCV000325927 SCV000353036 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389921 SCV000353037 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555269 SCV000653673 benign Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 2018-01-23 criteria provided, single submitter clinical testing

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