ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) (rs193922615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029422 SCV000052072 likely pathogenic Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Ambry Genetics RCV000619023 SCV000737839 uncertain significance Cardiovascular phenotype 2016-12-03 criteria provided, single submitter clinical testing Insufficient evidence

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