ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) (rs886038918)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245759 SCV000319124 uncertain significance Cardiovascular phenotype 2013-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000282213 SCV000377927 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318502 SCV000377928 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing

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