ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.709T>C (p.Tyr237His)

gnomAD frequency: 0.00005  dbSNP: rs762488338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222129 SCV002499577 uncertain significance Familial dysfibrinogenemia criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793741 SCV005413669 likely pathogenic not provided 2024-06-07 criteria provided, single submitter clinical testing PP3, PM1, PM2_moderate, PS3

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