ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1249-11G>C

gnomAD frequency: 0.46907  dbSNP: rs2280764
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126981 SCV000170512 benign not specified 2012-11-05 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, Mass General Brigham Personalized Medicine RCV000126981 SCV000269260 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 1270-11G>C in intron 12 of MYH11: This variant is not expected to have clinical significance because it has been identified in 37.3% (3209/8600) of European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2280764).
PreventionGenetics, part of Exact Sciences RCV000126981 SCV000306162 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094327 SCV000395385 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Diagnostics, LLC DBA Color Health RCV000380615 SCV000902538 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094327 SCV002014388 benign Aortic aneurysm, familial thoracic 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775615 SCV002014389 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775616 SCV002014390 benign Visceral myopathy 2 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001094327 SCV002322251 benign Aortic aneurysm, familial thoracic 4 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714495 SCV005290216 benign not provided criteria provided, single submitter not provided

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