ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.*5C>G (rs1875184)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617080 SCV000318107 benign Cardiovascular phenotype 2015-09-09 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
Color RCV000254041 SCV000902996 benign Thoracic aortic aneurysm and aortic dissection 2018-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000126971 SCV000170502 benign not specified 2012-12-28 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 RCV000254041 SCV000395185 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279137 SCV000395186 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000126971 SCV000269277 benign not specified 2013-04-04 criteria provided, single submitter clinical testing *5C>G in exon 42 of MYH11: This variant is not expected to have clinical signifi cance because it has been identified in 8.8% (388/4394) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS; dbSNP rs1875184).
PreventionGenetics RCV000126971 SCV000306217 benign not specified criteria provided, single submitter clinical testing

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