ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) (rs56056823)

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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 RCV000176892 SCV000228653 benign not specified 2015-04-02 criteria provided, single submitter clinical testing
Invitae RCV001001497 SCV000291201 benign Aortic aneurysm, familial thoracic 7 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176892 SCV000315306 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248149 SCV000319437 likely benign Cardiovascular phenotype 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000176892 SCV000527982 benign not specified 2016-11-07 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770612 SCV000902062 benign Familial thoracic aortic aneurysm and aortic dissection 2017-02-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001497 SCV001158786 benign Aortic aneurysm, familial thoracic 7 2018-07-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001001497 SCV001304773 likely benign Aortic aneurysm, familial thoracic 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000176892 SCV001338177 benign not specified 2020-02-22 criteria provided, single submitter clinical testing

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