ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.372T>C (p.Asn124=) (rs377384557)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621321 SCV000735837 likely benign Cardiovascular phenotype 2017-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769385 SCV000900777 likely benign Cardiomyopathy 2015-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000038612 SCV000516785 likely benign not specified 2017-08-30 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 RCV000309406 SCV000377567 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364053 SCV000377568 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269410 SCV000377569 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468437 SCV000561925 benign Dilated cardiomyopathy 1O 2017-11-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038612 SCV000062290 likely benign not specified 2013-05-08 criteria provided, single submitter clinical testing Asn124Asn in exon 3 of ABCC9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (9/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Asn124Asn in exon 3 of ABCC9 (all ele frequency = 0.1%, 9/8600) **

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.