ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) (rs9840993)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179991 SCV000232323 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179991 SCV000269309 benign not specified 2014-12-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.439C) is the minor allele. This al lele (C) has been identified in 0.7% (61/8600) of European American chromosomes and 36% (1598/4406) of African American chromosomes by the NHLBI Exome Sequencin g Project (; dbSNP rs9840993) and thus meets cr iteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000179991 SCV000315301 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380436 SCV000440343 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000179991 SCV000521285 benign not specified 2016-09-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586763 SCV000604371 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586763 SCV000699794 benign not provided 2016-02-12 criteria provided, single submitter clinical testing Variant summary: This c.439C>T affects a conserved nucleotide, resulting in amino acid change from Pro to Ser. 3/4 in-silico tools predict this variant to be benign. This variant was found in 114076/120782 control chromosomes from ExAC at a frequency of 0.9444785, which is more than 75557 times greater than the maximal expected frequency of a pathogenic allele (0.0000125) in this gene. This proves that this variant is a very common polymorphism. One clinical lab (via ClinVar) has classified this variant as benign. Taken together, this variant has been classified as Benign.
Ambry Genetics RCV000621124 SCV000738272 benign Cardiovascular phenotype 2015-08-07 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608983 SCV000734243 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing

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