ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) (rs1254392)

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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 RCV000218155 SCV000269308 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Asp1439Asp in exon 25 of MYLK: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9% (809/8600) of European American chromosomes and 48% (2112/4406) of African American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs1254392).
PreventionGenetics,PreventionGenetics RCV000218155 SCV000315300 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380487 SCV000440280 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000218155 SCV000525678 benign not specified 2016-09-23 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.
Ambry Genetics RCV000619561 SCV000738301 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218155 SCV000861678 benign not specified 2018-06-05 criteria provided, single submitter clinical testing

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