ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) (rs11648119)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030299 SCV000052966 benign Familial aortopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000126956 SCV000170487 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.
Invitae RCV000230875 SCV000285795 benign Aortic aneurysm, familial thoracic 4 2017-08-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000126956 SCV000306199 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617089 SCV000317789 benign Cardiovascular phenotype 2015-09-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000252040 SCV000395248 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279480 SCV000395249 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000126956 SCV000604340 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000126956 SCV000711375 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Lys1597Lys in exon 34 of MYH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2.1% (177/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11648119).
Color RCV000252040 SCV000902638 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing

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