ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.477G>T (p.Thr159=) (rs148365503)

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,Partners HealthCare Personalized Medicine RCV000216208 SCV000270487 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing p.Thr159Thr in exon 4 of MYL3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.02% (8/33578) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://exac.broa dinstitute.org; dbSNP rs148365503). ACMG/AMP Criteria applied: BS1, BP4, BP7.
GeneDx RCV000216208 SCV000513824 benign not specified 2015-07-28 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.
Invitae RCV000463239 SCV000560095 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618975 SCV000737364 likely benign Cardiovascular phenotype 2015-10-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV001182230 SCV001347615 likely benign Cardiomyopathy 2020-01-15 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.