ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3049-10C>T (rs186741807)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587094 SCV000202327 uncertain significance not provided 2014-11-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309489 SCV000377816 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366541 SCV000377817 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001081172 SCV000562920 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587094 SCV000697547 benign not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: c.3049-10>T in CACNA1C gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.001174 (142/120926 chrs tested), including 1 homozygote. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.00001, suggesting that it is a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Likely Benign/Benign by reputable databases/clinical laboratory. Taking together the variant was classified as Benign.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852663 SCV000995369 likely benign Congestive heart failure 2019-04-09 criteria provided, single submitter clinical testing

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