ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) (rs184684058)

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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 RCV000176043 SCV000227634 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Invitae RCV001084304 SCV000562900 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619374 SCV000737436 likely benign Cardiovascular phenotype 2016-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000716945 SCV000847790 likely benign History of neurodevelopmental disorder 2016-09-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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