ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)

gnomAD frequency: 0.00001  dbSNP: rs730880727
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158498 SCV000208433 benign not specified 2014-05-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084598 SCV000623749 likely benign Hypertrophic cardiomyopathy 2024-01-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184757 SCV001350817 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345537 SCV002653196 likely benign Cardiovascular phenotype 2018-08-07 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 RCV002492623 SCV002803377 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 2021-10-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184757 SCV004819804 likely benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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