ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)

dbSNP: rs200852418
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Total submissions: 7
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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 RCV000035890 SCV000059541 likely benign not specified 2012-06-11 criteria provided, single submitter clinical testing Arg1396Arg in exon 31 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Arg1396Arg in exon 31 of MYH7 (allele freque ncy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000629162 SCV000750078 likely benign Hypertrophic cardiomyopathy 2023-12-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525526 SCV001735665 likely benign Cardiomyopathy 2020-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001540224 SCV001758084 benign not provided 2015-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326725 SCV002628510 likely benign Cardiovascular phenotype 2020-04-13 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 RCV002477075 SCV002795974 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 2021-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534747 SCV004714927 likely benign MYH7-related disorder 2020-11-18 no assertion criteria provided 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).

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