ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) (rs201171029)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000712362 SCV000885787 benign not provided 2018-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712362 SCV000842836 benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Color RCV000777860 SCV000913863 benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035960 SCV000337975 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000035960 SCV000208431 benign not specified 2014-07-01 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.
Invitae RCV000560178 SCV000623738 likely benign Hypertrophic cardiomyopathy 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035960 SCV000059612 benign not specified 2012-07-07 criteria provided, single submitter clinical testing Glu1787Glu in exon 37 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. This variant is listed in dbSNP and 1000 geno mes with a frequency of 7.6% (10/132) in the Mexican American population (rs2011 71029). Glu1787Glu in exon 37 of MYH7 (rs201171029; allele frequency = 7.6, 10 /132)

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