ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1022G>C (p.Gly341Ala) (rs8099021)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216131 SCV000269336 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.1022G) is the minor allele. This a llele (G) has been identified in 28% (2372/8340) of European American chromosome s and 19% (769/4008) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs8099021) and thus meets c riteria to be classified as benign.
Ambry Genetics RCV000619229 SCV000739815 benign Cardiovascular phenotype 2012-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000838120 SCV000979984 benign not provided 2018-06-13 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.

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.