ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) (rs113964173)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126968 SCV000170499 benign not specified 2013-06-23 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000126968 SCV000269275 benign not specified 2015-12-11 criteria provided, single submitter clinical testing p.Glu1899Asp in exon 41 of MYH11: This variant is not expected to have clinical significance because it has been identified in 0.5% (623/121214) of pan ethnic c hromosomes including 3 homozygous individuals by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org/; dbSNP rs113964173).
PreventionGenetics,PreventionGenetics RCV000126968 SCV000306210 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248231 SCV000317336 benign Cardiovascular phenotype 2014-10-06 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000475215 SCV000556101 benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000475215 SCV000604339 benign Aortic aneurysm, familial thoracic 4 2019-05-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000475215 SCV000744011 benign Aortic aneurysm, familial thoracic 4 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000475215 SCV000745469 likely benign Aortic aneurysm, familial thoracic 4 2017-05-31 criteria provided, single submitter clinical testing
Color RCV000776051 SCV000910661 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Mendelics RCV000475215 SCV001139960 likely benign Aortic aneurysm, familial thoracic 4 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000475215 SCV001279556 likely benign Aortic aneurysm, familial thoracic 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000475215 SCV001190849 benign Aortic aneurysm, familial thoracic 4 2020-02-05 no assertion criteria provided clinical testing

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