ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.-11T>C (rs72559432)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000038578 SCV000522226 likely benign not specified 2015-12-16 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 RCV000351706 SCV000377579 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400094 SCV000377580 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311917 SCV000377581 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029272 SCV000051918 uncertain Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038578 SCV000062256 not provided not specified 2013-08-11 no assertion provided clinical testing The -11T>C variant in ABCC9 has been identified in 1/8598 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). This variant is located in the 5' UTR of the ABCC9 gene and although this region can contain regulatory elements, there is no obvious predicted effect of this variant and there are no pathogenic variants that have been reported in this region of ABCC9. Additional information is needed to fully assess the clinical significance of the -11T>C variant.

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