ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) (rs3732485)

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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 RCV000755316 SCV000604380 benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617024 SCV000319373 benign Cardiovascular phenotype 2015-01-23 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000243617 SCV000900712 benign Thoracic aortic aneurysm and aortic dissection 2016-02-01 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000211453 SCV000212179 likely benign Aortic aneurysm, familial thoracic 6 2015-03-11 criteria provided, single submitter research
GeneDx RCV000222439 SCV000525669 benign not specified 2016-12-06 no assertion criteria provided 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 RCV000243617 SCV000440315 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463249 SCV000560677 benign Aortic aneurysm, familial thoracic 7 2017-08-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222439 SCV000269292 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Arg845Cys in exon 18 of MYLK: This variant is not expected to have clinical sign ificance because it has been identified in 1.4% (61/4402) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs3732485).
PreventionGenetics RCV000222439 SCV000315277 benign not specified criteria provided, single submitter clinical testing

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