ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5917+1G>T

dbSNP: rs363808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001028009 SCV002053859 pathogenic Marfan syndrome criteria provided, single submitter research
Invitae RCV001862419 SCV002291965 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-07-14 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028009 SCV001190773 likely pathogenic Marfan syndrome 2020-02-05 no assertion criteria provided clinical testing

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