ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)

gnomAD frequency: 0.00036  dbSNP: rs121918027
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490289 SCV000267452 uncertain significance Plasminogen deficiency, type I 2016-03-18 criteria provided, single submitter reference population
Mendelics RCV000490289 SCV001137268 benign Plasminogen deficiency, type I 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513047 SCV003282315 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317035 SCV004020545 likely benign not specified 2023-06-28 criteria provided, single submitter clinical testing
OMIM RCV000014542 SCV000034793 pathogenic Dysplasminogenemia 1997-11-01 no assertion criteria provided literature only

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