ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) (rs142835596)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227052 SCV000291192 benign not provided 2019-01-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251900 SCV000315275 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000251900 SCV000604379 benign not specified 2016-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619280 SCV000738415 benign Cardiovascular phenotype 2015-09-22 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769335 SCV000900715 benign Thoracic aortic aneurysm and aortic dissection 2016-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000251900 SCV000525091 benign not specified 2016-11-30 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.

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