ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5277C>T (p.Val1759=) (rs112564682)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000380933 SCV000395225 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288748 SCV000395226 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550655 SCV000641069 likely benign Aortic aneurysm, familial thoracic 4 2017-11-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762207 SCV000892481 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000380933 SCV000913739 likely benign Thoracic aortic aneurysm and aortic dissection 2018-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000762207 SCV000969813 likely benign not provided 2018-04-05 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.

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