Total 4 pathogenic variants reported for Congenital plasminogen activator inhibitor type 1 deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000602.5(SERPINE1):c.537C>T (p.Ala179=)	SNV Germline	Chr7:101131906	Conflicting classifications of pathogenicity	Congenital plasminogen activator inhibitor type 1 deficiency SERPINE1-related disorder	Criteria Provided Conflicting Classifications	CA4405645	rs_376407844	2 SubmittersRCV000349706 RCV003922584
NM_000602.5(SERPINE1):c.456G>C (p.Val152=)	SNV Germline	Chr7:101130605	Conflicting classifications of pathogenicity	Congenital plasminogen activator inhibitor type 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4405616	rs_200318916	2 SubmittersRCV000294811 RCV000900882
NM_000602.5(SERPINE1):c.1020C>T (p.Val340=)	SNV Germline	Chr7:101135734	Conflicting classifications of pathogenicity	Congenital plasminogen activator inhibitor type 1 deficiency SERPINE1-related disorder	Criteria Provided Conflicting Classifications	CA4405792	rs_201351580	2 SubmittersRCV000403457 RCV003950273