ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2644-11G>A (rs61926078)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000038607 SCV000166799 benign not specified 2014-03-20 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 RCV000291264 SCV000377495 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348574 SCV000377496 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391313 SCV000377497 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029278 SCV000051924 benign Cardiomyopathy 2015-06-04 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038607 SCV000062285 benign not specified 2012-11-28 criteria provided, single submitter clinical testing 2644-11G>A in intron 21 of ABCC9: This variant affects a position in the intron that sometimes affect splicing. However, it has been observed at a frequency i n the general population that makes a role in disease very unlikely (http://evs. gs.washington.edu/EVS/). 2644-11G>A in intron 21 of ABCC9 (rs61926078; allele f requency = 0.097%, 84/8600)**

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