ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) (rs143346402)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621436 SCV000737288 likely benign Cardiovascular phenotype 2017-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770407 SCV000901849 likely benign Cardiomyopathy 2016-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000038585 SCV000511920 benign not specified 2015-05-06 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 RCV000356195 SCV000377528 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261506 SCV000377529 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316769 SCV000377530 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459982 SCV000561918 likely benign Dilated cardiomyopathy 1O 2017-09-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038585 SCV000062263 likely benign not specified 2012-07-02 criteria provided, single submitter clinical testing Glu519Glu in exon 10 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. It has been identified in 2/8600 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs143346402). Glu519Glu in exon 10 of ABC C9 (rs143346402; allele frequency= 2/8600) **

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