ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1005C>T (p.Thr335=) (rs4678047)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215397 SCV000269287 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Thr335Thr in exon 10 of MYLK: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 39.2% (1727/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4678047).
PreventionGenetics,PreventionGenetics RCV000215397 SCV000315268 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269693 SCV000440332 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619086 SCV000738288 benign Cardiovascular phenotype 2014-12-30 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
GeneDx RCV000215397 SCV000525637 benign not specified 2016-09-23 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601909 SCV000734242 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing

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