ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.1567C>T (p.Arg523Trp)

gnomAD frequency: 0.00772  dbSNP: rs4252129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949513 SCV001095771 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502915 SCV002810157 likely benign Plasminogen deficiency, type I; Angioedema, hereditary, 4 2021-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949513 SCV004158592 benign not provided 2023-01-01 criteria provided, single submitter clinical testing PLG: BP4, BS1, BS2

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