ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1164+11= (rs4762720)

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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 RCV000038581 SCV000062259 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000038581 SCV000166788 benign not specified 2013-12-02 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.
PreventionGenetics,PreventionGenetics RCV000038581 SCV000311246 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275229 SCV000377549 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330265 SCV000377550 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383488 SCV000377551 likely benign Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing

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