ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2199-11= (rs697250)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038599 SCV000062277 benign not specified 2018-03-07 criteria provided, single submitter clinical testing c.2199-11T>C in intron 16 of ABCC9: This "variant" represents the major allele a t this position. The "variant" is observed in 0.55% of African American chromoso mes by the Genome Aggregation Database ( http://gnomad.broadinstitute.org/varian t/12-22017422-A-G). ACMG classification BA1
GeneDx RCV000038599 SCV000166792 benign not specified 2013-11-22 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038599 SCV000226635 benign not specified 2015-04-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038599 SCV000311248 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336614 SCV000377513 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372625 SCV000377514 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278224 SCV000377515 likely benign Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing

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