ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) (rs35156360)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755312 SCV000604383 benign not provided 2017-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621719 SCV000738292 benign Cardiovascular phenotype 2015-01-30 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000217065 SCV000338967 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000217065 SCV000525093 benign not specified 2016-10-10 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 RCV000404130 SCV000440329 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232645 SCV000291188 benign Aortic aneurysm, familial thoracic 7 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217065 SCV000269288 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Pro443Ser in exon 11 of MYLK: This variant is not expected to have clinical sign ificance because it has been identified in 2.0% (176/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs35156360).
PreventionGenetics RCV000217065 SCV000315269 benign not specified criteria provided, single submitter clinical testing

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