ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) (rs1051360)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244258 SCV000318139 likely benign Cardiovascular phenotype 2016-01-22 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 RCV000718424 SCV000849287 likely benign History of neurodevelopmental disorder 2016-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152898 SCV000202325 benign not specified 2018-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387297 SCV000377780 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295453 SCV000377781 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233581 SCV000285584 benign Long QT syndrome 2017-12-28 criteria provided, single submitter clinical testing

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