ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) (rs374857905)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000377275 SCV000339949 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328905 SCV000377802 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376387 SCV000377803 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538058 SCV000627520 likely benign Long QT syndrome 2017-12-12 criteria provided, single submitter clinical testing

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