ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.1634A>T (p.Glu545Val)

gnomAD frequency: 0.00001  dbSNP: rs121909612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002490381 SCV002785578 pathogenic Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 2021-07-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480033 SCV004226124 pathogenic not provided 2023-02-08 criteria provided, single submitter clinical testing
OMIM RCV000017871 SCV000038150 pathogenic Familial visceral amyloidosis, Ostertag type 2008-12-25 no assertion criteria provided literature only

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