ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5700C>T (p.Arg1900=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003817468 SCV004618765 likely benign Aortic aneurysm, familial thoracic 4 2023-07-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006089 SCV004825684 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-15 criteria provided, single submitter clinical testing This variant is located in the MYH11 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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