ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2199-6T>C (rs535477725)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156804 SCV000522111 likely benign not specified 2015-12-14 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 RCV000321867 SCV000377510 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376175 SCV000377511 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281682 SCV000377512 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156804 SCV000206525 likely benign not specified 2014-09-16 criteria provided, single submitter clinical testing 2199-6T>C in intron 16 of ABCC9: This variant is not expected to have clinical s ignificance because a T>C change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing.
PreventionGenetics RCV000156804 SCV000313467 likely benign not specified criteria provided, single submitter clinical testing

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