ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2424+9T>C (rs11835804)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000038603 SCV000166794 benign not specified 2014-03-18 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 RCV000313844 SCV000377501 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368560 SCV000377502 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273831 SCV000377503 likely benign Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469260 SCV000561919 benign Dilated cardiomyopathy 1O 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038603 SCV000062281 benign not specified 2010-05-03 criteria provided, single submitter clinical testing Classified as benign based on high allele frequency in YRI population (7.6%; dbS NP rs11835804)
PreventionGenetics RCV000038603 SCV000313470 benign not specified criteria provided, single submitter clinical testing

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