ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) (rs138423302)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248292 SCV000301845 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272318 SCV000352946 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301685 SCV000352947 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001085702 SCV000653716 benign Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 2020-11-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000538638 SCV001143497 benign not provided 2018-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000538638 SCV001770229 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing

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