ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1871G>A (p.Arg624His)

gnomAD frequency: 0.00068  dbSNP: rs201991156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000225694 SCV000234841 benign not specified 2018-01-09 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 Laboratory Services, Illumina RCV000143925 SCV000395378 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000143925 SCV000913633 benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055858 SCV002395483 benign Aortic aneurysm, familial thoracic 4 2023-12-05 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143925 SCV000188803 benign Familial thoracic aortic aneurysm and aortic dissection 2014-11-05 no assertion criteria provided clinical testing

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