ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) (rs147008323)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757533 SCV000885793 likely benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617830 SCV000739285 benign Cardiovascular phenotype 2016-04-15 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
Illumina Clinical Services Laboratory,Illumina RCV000294084 SCV000440321 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233355 SCV000291191 benign Aortic aneurysm, familial thoracic 7 2017-02-16 criteria provided, single submitter clinical testing

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