ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.1006A>T (p.Met336Leu)

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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 RCV004771603 SCV005382206 likely pathogenic Familial dysfibrinogenemia 2023-08-16 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PM5, PP3, PP4; Variant was found in a heterozygous state

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