ClinVar Miner

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

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723669 SCV000111157 uncertain significance not provided 2013-08-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248726 SCV000305446 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001079799 SCV000562918 benign Long QT syndrome 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620526 SCV000738032 likely benign Cardiovascular phenotype 2016-07-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as 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)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286450 SCV001473022 likely benign none provided 2020-07-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723669 SCV001747640 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000723669 SCV001848594 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000248726 SCV001922699 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000723669 SCV001956074 likely benign not provided no assertion criteria provided clinical testing

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