ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.36G>A (p.Ala12=)

gnomAD frequency: 0.00487  dbSNP: rs141014719
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151228 SCV000199095 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala12Ala in Exon 03 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.9% (72/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs141014719).
Invitae RCV000756390 SCV000287413 benign Hypertrophic cardiomyopathy 14 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249069 SCV000318584 benign Cardiovascular phenotype 2014-12-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000151228 SCV000515471 benign not specified 2016-11-21 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812123 SCV000884186 benign not provided 2019-11-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770463 SCV000901906 benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505150 SCV002807111 likely benign Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000151228 SCV001924937 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000151228 SCV001965737 benign not specified no assertion criteria provided clinical testing

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