ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=)

gnomAD frequency: 0.00003  dbSNP: rs558051480
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617494 SCV000737309 likely benign Cardiovascular phenotype 2017-09-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770341 SCV000901775 likely benign Cardiomyopathy 2016-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770341 SCV000905906 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000841944 SCV000983935 likely benign not provided 2018-04-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066938 SCV002341240 likely benign Hypertrophic cardiomyopathy 2024-02-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323637 SCV004030121 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002066938 SCV004842411 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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.