ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.2286T>G (p.Gly762=)

gnomAD frequency: 0.55831  dbSNP: rs11060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645341 SCV001855556 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789456 SCV002031476 benign Angioedema, hereditary, 4 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789455 SCV002031477 benign Plasminogen deficiency, type I 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001645341 SCV002373691 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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