ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) (rs753892795)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000275182 SCV000377858 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332689 SCV000377859 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000631738 SCV000752827 likely benign Long QT syndrome 2017-11-28 criteria provided, single submitter clinical testing

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