Total 3 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	Pathogenic/Likely pathogenic	Primary familial polycythemia due to EPO receptor mutation Thrombocythemia 1	Criteria Provided Multiple Submitters No Conflicts		rs_148636776	3 SubmittersRCV000760171 RCV000760174
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