ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) (rs1256252633)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620914 SCV000736598 uncertain significance Cardiovascular phenotype 2016-05-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786113 SCV000924766 uncertain significance not provided 2017-06-20 no assertion criteria provided provider interpretation

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