ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser)

dbSNP: rs1555394626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374817 SCV001439518 likely pathogenic Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV004793368 SCV005414264 pathogenic not provided 2018-11-25 criteria provided, single submitter clinical testing PP2, PP3, PM1_strong, PM2, PM5, PS4_supporting

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