ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791151 SCV005413663 likely pathogenic not provided 2024-06-12 criteria provided, single submitter clinical testing PM2, PVS1_strong
Fulgent Genetics, Fulgent Genetics RCV005038838 SCV005660598 likely pathogenic Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 2024-05-14 criteria provided, single submitter clinical testing

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