ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.407-14C>A (rs201279882)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038615 SCV000062293 likely benign not specified 2012-05-10 criteria provided, single submitter clinical testing c.407-14C>A in intron 3 of ABCC9: This variant is not expected to have clinical significance because it has been identified in 0.5% (32/7020) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
GeneDx RCV000038615 SCV000166783 benign not specified 2014-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000312271 SCV000377564 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366987 SCV000377565 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272501 SCV000377566 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852673 SCV000995380 benign Arrhythmogenic right ventricular cardiomyopathy 2019-03-25 criteria provided, single submitter clinical testing

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