ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) (rs139408145)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244444 SCV000318643 benign Cardiovascular phenotype 2015-10-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000029277 SCV000901841 benign Cardiomyopathy 2016-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000038606 SCV000166797 benign not specified 2014-01-28 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 RCV000298765 SCV000377498 likely benign Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334983 SCV000377499 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391470 SCV000377500 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029277 SCV000051923 benign Cardiomyopathy 2015-06-02 no assertion criteria provided clinical testing
Invitae RCV000227778 SCV000288983 benign Dilated cardiomyopathy 1O 2018-01-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038606 SCV000062284 benign not specified 2012-08-14 criteria provided, single submitter clinical testing Thr877Thr in Exon 21 of ABCC9: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (13/4406) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs139408145).
PreventionGenetics RCV000038606 SCV000313471 likely benign not specified criteria provided, single submitter clinical testing

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