ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.192G>T (p.Ala64=)

gnomAD frequency: 0.06307  dbSNP: rs9964300
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221363 SCV000269349 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala64Ala in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 11.6% (473/4072) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs9964300).
Ambry Genetics RCV000221363 SCV000739805 likely benign not specified 2022-05-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520127 SCV001729149 benign Hypertrophic cardiomyopathy 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651074 SCV001870009 benign not provided 2019-05-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651074 SCV005248217 benign not provided criteria provided, single submitter not provided

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.