ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.1242del (p.Phe415fs)

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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 Immunology and Genetics Kaiserslautern RCV004674044 SCV005093836 likely pathogenic Congenital afibrinogenemia; Familial dysfibrinogenemia 2024-07-08 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2; Variant was found in heterozygous state

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