ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.950+14G>A

gnomAD frequency: 0.35203  dbSNP: rs2295368
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712959 SCV001939888 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789418 SCV002031471 benign Angioedema, hereditary, 4 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789417 SCV002031472 benign Plasminogen deficiency, type I 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001712959 SCV002409215 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528313 SCV001739841 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528313 SCV001955510 benign not specified no assertion criteria provided clinical testing

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