ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr) (rs764843752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768272 SCV000898836 uncertain significance Aortic aneurysm, familial thoracic 4 2017-11-30 criteria provided, single submitter clinical testing MYH11 NM_002474.2 exon 41 p.Ile1948Thr (c.5843T>C): This variant has not been reported in the literature but is present in 1/111720 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs764843752). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Color RCV001189778 SCV001357139 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-02-16 criteria provided, single submitter clinical testing

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