ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) (rs56394008)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620526 SCV000738032 likely benign Cardiovascular phenotype 2016-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Ambry Genetics RCV000716419 SCV000847259 likely benign History of neurodevelopmental disorder 2016-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723669 SCV000111157 uncertain significance not provided 2013-08-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390111 SCV000377832 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310314 SCV000377833 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468679 SCV000562918 benign Long QT syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248726 SCV000305446 likely benign not specified criteria provided, single submitter clinical testing

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