ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) (rs112532048)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000757053 SCV000262441 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079284 SCV000335662 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311539 SCV000377810 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350246 SCV000377811 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620022 SCV000735962 benign Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
Ambry Genetics RCV000718458 SCV000849321 benign History of neurodevelopmental disorder 2017-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757053 SCV000885136 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852662 SCV000995368 benign Hypertrophic cardiomyopathy 2018-02-07 criteria provided, single submitter clinical testing

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