ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) (rs16967494)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755575 SCV000604331 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253396 SCV000317692 benign Thoracic aortic aneurysm and aortic dissection 2015-02-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000617806 SCV000738273 benign Cardiovascular phenotype 2014-11-24 criteria provided, single submitter clinical testing
Color RCV000253396 SCV000910522 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000126941 SCV000170472 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.
Illumina Clinical Services Laboratory,Illumina RCV000253396 SCV000395349 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359456 SCV000483531 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000126941 SCV000269266 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ala1241Thr in exon 29 of MYH11: This variant is not expected to have clinical si gnificance because it has been identified in 26.2% (2253/8600) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs16967494).
PreventionGenetics RCV000126941 SCV000306179 benign not specified criteria provided, single submitter clinical testing

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