Total 12 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.1317G>A (p.Trp439Ter) SNV
Germline
Chr19:11378194 Pathogenic Primary familial polycythemia due to EPO receptor mutation
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA126700 rs_121918116

4 SubmittersRCV000018065RCV005647964

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 SubmittersRCV000258849RCV001293750

NM_000121.4(EPOR):c.1310G>A (p.Arg437His) SNV
Germline
Chr19:11378201 Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9210532 rs_62638744

6 SubmittersRCV000258848RCV002059064RCV005646885

NM_000121.4(EPOR):c.215T>C (p.Val72Ala) SNV
Germline
Chr19:11383133 Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9210880 rs_780617943

3 SubmittersRCV000334415RCV006462447

NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) SNV
Germline
Chr19:11378372 Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9210558 rs_199645071

5 SubmittersRCV000367754RCV004718518RCV005646914

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
Thrombocythemia 1
Primary myelofibrosis
Primary familial polycythemia due to EPO receptor mutation
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6789874 rs_148636776

5 SubmittersRCV000760171RCV000760174RCV005010757RCV004792431

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
CA9210805 rs_146235694

3 SubmittersRCV000885832RCV001127635

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
CA9210689 rs_776887278

3 SubmittersRCV001125537RCV002556720RCV004726894

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
CA6789591 rs_376261237

1 SubmittersRCV002250348

NM_000121.4(EPOR):c.1505C>G (p.Pro502Arg) SNV
Germline
Chr19:11378006 Conflicting classifications of pathogenicity Condition: not provided
Primary familial polycythemia due to EPO receptor mutation
Criteria Provided
Conflicting Classifications

3 SubmittersRCV004790746RCV006451486

NM_000121.4(EPOR):c.1439T>C (p.Leu480Ser) SNV
Germline
Chr19:11378072 Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005400622RCV005555247

NM_000121.4(EPOR):c.950G>A (p.Trp317Ter) SNV
Germline
Chr19:11378561 Likely pathogenic Primary familial polycythemia due to EPO receptor mutation No Assertion Criteria Provided

1 SubmittersRCV005412104