ClinVar Miner

Submissions for variant NM_000602.5(SERPINE1):c.719A>G (p.Asp240Gly)

gnomAD frequency: 0.00001  dbSNP: rs745829911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333537 SCV001526141 uncertain significance Congenital plasminogen activator inhibitor type 1 deficiency 2018-11-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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