ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5439G>A (p.Gln1813=)

gnomAD frequency: 0.00002  dbSNP: rs200854143
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Total submissions: 8
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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 RCV000037532 SCV000061190 likely benign not specified 2012-11-28 criteria provided, single submitter clinical testing p.Gln1813Gln in exon 36 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Invitae RCV000473841 SCV000557881 benign Hypertrophic cardiomyopathy 14 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621980 SCV000739966 benign Cardiovascular phenotype 2016-07-07 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171175 SCV001333867 benign Cardiomyopathy 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV001689591 SCV001912170 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534792 SCV004728366 benign MYH6-related disorder 2019-06-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000037532 SCV001918912 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001689591 SCV001970888 likely benign not provided no assertion criteria provided clinical testing

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