ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) (rs761784169)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850523 SCV000992729 pathogenic Hypertrichotic osteochondrodysplasia; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 2012-08-10 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172508 SCV000050853 likely benign not provided 2013-06-24 criteria provided, single submitter research
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000172508 SCV000987680 uncertain significance not provided criteria provided, single submitter clinical testing

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