ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) (rs397515929)

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 RCV000618801 SCV000736302 likely benign Cardiovascular phenotype 2016-09-02 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),Subpopulation frequency in support of benign classification
Color RCV000771259 SCV000903372 benign Cardiomyopathy 2018-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000035438 SCV000513754 benign not specified 2015-04-09 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 RCV000299218 SCV000372343 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356394 SCV000372344 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264440 SCV000372345 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000356394 SCV000623535 benign Hypertrophic cardiomyopathy 2017-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035438 SCV000059086 likely benign not specified 2012-11-20 criteria provided, single submitter clinical testing Asp604Asp in exon 19 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Asp604Asp in exon 19 of MYBPC3 (allele freq uency = n/a)

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.