ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)

gnomAD frequency: 0.00004  dbSNP: rs45523835
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Total submissions: 10
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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 RCV000035884 SCV000059535 likely benign not specified 2009-10-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769447 SCV000900840 likely benign Cardiomyopathy 2023-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000841750 SCV000983733 likely benign not provided 2018-04-12 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.
Color Diagnostics, LLC DBA Color Health RCV000769447 SCV001345909 likely benign Cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429066 SCV001631776 likely benign Hypertrophic cardiomyopathy 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321505 SCV002626480 likely benign Cardiovascular phenotype 2018-10-25 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.
Fulgent Genetics, Fulgent Genetics RCV002477074 SCV002798418 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000841750 SCV004129087 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MYH7: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004541079 SCV004770314 likely benign MYH7-related disorder 2020-11-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000769447 SCV004833126 likely benign Cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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