ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.1962G>T (p.Val654=)

gnomAD frequency: 0.00147  dbSNP: rs4252196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964416 SCV001111621 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489374 SCV002800320 likely benign Plasminogen deficiency, type I; Angioedema, hereditary, 4 2021-08-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702540 SCV005202273 likely benign not specified 2024-07-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000964416 SCV001931635 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000964416 SCV001971614 likely benign not provided no assertion criteria provided clinical testing

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