ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4194C>T (p.His1398=) (rs17298941)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756394 SCV000884194 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621115 SCV000738321 benign Cardiovascular phenotype 2015-02-20 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 RCV000217763 SCV000525869 benign not specified 2016-09-26 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 RCV000344630 SCV000440285 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462804 SCV000560697 benign Aortic aneurysm, familial thoracic 7 2017-08-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217763 SCV000269305 benign not specified 2013-04-04 criteria provided, single submitter clinical testing His1398His in exon 24 of MYLK: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 3.9% (339/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17298941).
PreventionGenetics RCV000217763 SCV000315296 benign not specified criteria provided, single submitter clinical testing

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