ClinVar Miner

Submissions for variant NM_005141.5(FGB):c.490+1G>C

dbSNP: rs111502670
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001260487 SCV001437504 likely pathogenic Familial dysfibrinogenemia 2020-10-07 criteria provided, single submitter clinical testing Loss of function for authentic splice site probably leading to exon skipping. ACMG criteria used for classification: PVS1, PM2.

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