ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.345+6T>C

dbSNP: rs2043942811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178379 SCV001342816 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-08 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the +6 position of intron 2 of the MYH11 gene. 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.
All of Us Research Program, National Institutes of Health RCV001178379 SCV004827644 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-16 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the +6 position of intron 2 of the MYH11 gene. 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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