Total 5 pathogenic variants reported for Primary familial polycythemia due to EPO receptor mutation

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	SNV Germline/somatic	Chr19:11378195	Likely pathogenic	Primary familial polycythemia due to EPO receptor mutation Acute megakaryoblastic leukemia without down syndrome	Criteria Provided Single Submitter	CA10602669	rs_121917830	2 SubmittersRCV000258849 RCV001293750
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	SNV Germline	Chr12:111447491	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Thrombocythemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_148636776	4 SubmittersRCV000760171 RCV000760174 RCV004792431
NM_000121.4(EPOR):c.296C>T (p.Ala99Val)	SNV Germline	Chr19:11382061	Conflicting classifications of pathogenicity	Condition: not provided Primary familial polycythemia due to EPO receptor mutation	Criteria Provided Conflicting Classifications		rs_146235694	3 SubmittersRCV000885832 RCV001127635
NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	SNV Germline	Chr19:11381185	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_776887278	3 SubmittersRCV001125537 RCV002556720 RCV004726894
NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	SNV Germline	Chr12:111418146	Pathogenic	Primary familial polycythemia due to EPO receptor mutation	Criteria Provided Single Submitter		rs_376261237	1 SubmittersRCV002250348