ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.279G>A (p.Ala93=) (rs28645088)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000151361 SCV000170565 benign not specified 2013-08-19 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151361 SCV000199347 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing p.Ala93Ala in exon 5 of MYL2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.4% (40/10404) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs28645088).
Ambry Genetics RCV000253500 SCV000319810 likely benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000471087 SCV000560082 benign Familial hypertrophic cardiomyopathy 10 2020-12-04 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000471087 SCV000745540 benign Familial hypertrophic cardiomyopathy 10 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770395 SCV000901836 likely benign Cardiomyopathy 2015-08-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770395 SCV001354079 benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151361 SCV001478610 benign not specified 2021-01-28 criteria provided, single submitter clinical testing

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