ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) (rs886049209)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284846 SCV000377933 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339825 SCV000377934 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619388 SCV000738226 uncertain significance Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Ambry Genetics RCV000717251 SCV000848100 uncertain significance History of neurodevelopmental disorder 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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