ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.411C>G (p.Ser137=) (rs55760507)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618094 SCV000738319 benign Cardiovascular phenotype 2015-02-03 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 RCV000214089 SCV000528019 benign not specified 2016-10-03 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 RCV000345521 SCV000440345 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475492 SCV000560673 benign Aortic aneurysm, familial thoracic 7 2017-08-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214089 SCV000269304 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ser137Ser in exon 6 of MYLK: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 10.3% (452/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs55760507).
PreventionGenetics RCV000214089 SCV000315295 benign not specified criteria provided, single submitter clinical testing

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