ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) (rs113239186)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755886 SCV000883532 likely benign not provided 2018-02-27 criteria provided, single submitter clinical testing The c.5451C>T; p.His1817His variant (rs113239186, ClinVar variant ID 93414) does not alter the amino acid sequence of the CACNA1C protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.09% (identified on 109 out of 125,778chromosomes). Based on the available information, the c.5451C>T variant is likely to be benign.
Ambry Genetics RCV000622114 SCV000735568 likely benign Cardiovascular phenotype 2016-10-25 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 RCV000717889 SCV000848749 likely benign History of neurodevelopmental disorder 2016-10-25 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 RCV000079299 SCV000111169 likely benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321903 SCV000377902 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384789 SCV000377903 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469326 SCV000562878 likely benign Long QT syndrome 2017-09-20 criteria provided, single submitter clinical testing

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