ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) (rs16967510)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126945 SCV000170476 benign not specified 2013-09-25 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 RCV000126945 SCV000269267 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Val1296Ala in exon 30 of MYH11: This variant is not expected to have clinical si gnificance because it has been identified in 6.5% (560/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16967510).
PreventionGenetics,PreventionGenetics RCV000126945 SCV000306183 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242975 SCV000317340 benign Familial thoracic aortic aneurysm and aortic dissection 2015-06-19 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
Illumina Clinical Services Laboratory,Illumina RCV000467652 SCV000395296 benign Aortic aneurysm, familial thoracic 4 2018-01-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000274667 SCV000395297 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467652 SCV000556100 benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000467652 SCV000604334 benign Aortic aneurysm, familial thoracic 4 2018-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617351 SCV000738315 benign Cardiovascular phenotype 2014-11-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000467652 SCV000744019 benign Aortic aneurysm, familial thoracic 4 2014-10-09 criteria provided, single submitter clinical testing
Color RCV000242975 SCV000910547 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001116427 SCV001274501 benign Lissencephaly 4 2018-01-12 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000467652 SCV000745965 benign Aortic aneurysm, familial thoracic 4 2014-02-04 no assertion criteria provided clinical testing

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