ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4791+5G>A (rs376779423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221806 SCV000272000 uncertain significance not specified 2015-12-14 criteria provided, single submitter clinical testing The c.4812+5G>A variant in MYH11 has not been previously reported in individuals with connective tissue disorders, but has been identified in 3/66704 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs376779423). This variant is located in the 5' splice region. Compu tational tools do not suggest an impact to splicing. However, this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of the c.4812+5G>A variant is uncertain.
Invitae RCV000232546 SCV000285796 uncertain significance Aortic aneurysm, familial thoracic 4 2016-01-10 criteria provided, single submitter clinical testing

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