ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1677_1678insAT (p.Gly560fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV004585975 SCV005068256 likely pathogenic Marfan syndrome criteria provided, single submitter research ACMG and in silico analysis, including Mutation Taster, CADD, Polyphen-2, and SIFT, showed the potential c.1677_1678insAT association with disease causation.

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