Total 221 pathogenic variants reported for Histiocytic medullary reticulosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) SNV
Germline		 Chr10:14945110 Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency disease
DCLRE1C-related disorder		 Reviewed By Expert Panel
 CA117001 rs_121908156

11 SubmittersRCV000004929RCV000224235RCV001272780RCV000762806RCV003486542RCV005229764
NM_001033855.3(DCLRE1C):c.362+1G>T SNV
Germline		 Chr10:14936537 Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 CA376061094 rs_1564446526

2 SubmittersRCV000004934RCV003466817
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) SNV
Germline		 Chr10:14934461 Pathogenic Athabaskan severe combined immunodeficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA117004 rs_121908157

6 SubmittersRCV000004937RCV000703249RCV000256066RCV003466818
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) SNV
Germline		 Chr10:14953908 Pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Reviewed By Expert Panel
 CA117007 rs_121908159

6 SubmittersRCV000004938RCV001388406RCV005031391
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) SNV
Germline		 Chr11:36592736 Conflicting classifications of pathogenicity Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA122849 rs_121918573

5 SubmittersRCV000014009RCV000681602RCV003460470RCV003764566RCV005049335
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) SNV
Germline		 Chr11:36593483 Pathogenic Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA122854 rs_121917894

8 SubmittersRCV000014010RCV000014011RCV000681586RCV001049147RCV001813982RCV003398499RCV003473086RCV005042039
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) SNV
Germline		 Chr11:36594046 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122857 rs_121917895

3 SubmittersRCV000014012RCV000681574RCV001851843
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) SNV
Germline		 Chr11:36593315 Likely pathogenic Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122859 rs_121917896

3 SubmittersRCV000014013RCV000681589RCV005237374
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) SNV
Germline		 Chr11:36593886 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA122861 rs_36001797

8 SubmittersRCV000014014RCV001043887RCV003473087RCV000671154RCV003398500RCV004700229
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) SNV
Germline		 Chr11:36594054 Pathogenic Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA122867 rs_121917897

3 SubmittersRCV000014017RCV000014018RCV000681573RCV003991458
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV
Germline		 Chr11:36592817 Pathogenic Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Common variable immunodeficiency
Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA122872 rs_121918575

12 SubmittersRCV000014020RCV000521152RCV000681597RCV000821298RCV001027616RCV001731284RCV003398501RCV005042040
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) SNV
Germline		 Chr11:36575624 Pathogenic/Likely pathogenic Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122877 rs_104894282

4 SubmittersRCV000014022RCV005042041RCV003473088RCV003764568
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) SNV
Germline		 Chr11:36574986 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122886 rs_104894284

6 SubmittersRCV000014025RCV001384043RCV001332464RCV003473089RCV001781262RCV005042042RCV004813037
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) SNV
Germline		 Chr11:36574490 Pathogenic Histiocytic medullary reticulosis
Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122889 rs_104894289

7 SubmittersRCV000014026RCV000059556RCV003764569RCV003473090
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys) SNV
Germline		 Chr11:36576039 Pathogenic Histiocytic medullary reticulosis No Assertion Criteria Provided
 CA122892 rs_104894290

1 SubmittersRCV000014027
NM_000448.3(RAG1):c.1187G>A (p.Arg396His) SNV
Germline		 Chr11:36574491 Pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122895 rs_104894291

4 SubmittersRCV000014028RCV000688686RCV003473091RCV005049336
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly) SNV
Germline		 Chr11:36574590 Pathogenic Histiocytic medullary reticulosis No Assertion Criteria Provided
 CA122898 rs_104894292

1 SubmittersRCV000014029
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) SNV
Germline		 Chr11:36574985 Pathogenic Severe combined immunodeficiency, B cell-negative
Histiocytic medullary reticulosis
Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122901 rs_104894285

6 SubmittersRCV000014031RCV000014030RCV001091951RCV001386663RCV003473092RCV004767006RCV005229785
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) SNV
Germline		 Chr11:36575514 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Inherited Immunodeficiency Diseases
Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122904 rs_104894286

9 SubmittersRCV000014032RCV001027614RCV001091955RCV001389160RCV003227600RCV005042043RCV003473093
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) SNV
Germline		 Chr11:36575825 Pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122907 rs_104894287

5 SubmittersRCV000014040RCV001205083RCV005042044RCV003137515
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) SNV
Germline		 Chr11:36574823 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA034720 rs_104894298

3 SubmittersRCV001857789RCV002307468RCV005049501
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) SNV
Germline		 Chr11:36574287 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122922 rs_121918571

5 SubmittersRCV000014046RCV000820844RCV005042045RCV003473097RCV005430929
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) SNV
Germline		 Chr11:36575630 Pathogenic Severe combined immunodeficiency, B cell-negative
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122925 rs_121918572

5 SubmittersRCV000014047RCV000801211RCV004689417RCV005042046RCV003473098
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) SNV
Germline		 Chr11:36574870 Pathogenic Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213430 rs_193922461

8 SubmittersRCV000022745RCV000519696RCV000696949RCV003473148RCV005042097
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV
Germline		 Chr11:36594065 Pathogenic Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency
Inborn error of immunity
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG2-related disorder
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Condition: not provided		 Reviewed By Expert Panel
 CA214209 rs_148508754

9 SubmittersRCV000030395RCV000681571RCV000819784RCV003137544RCV004755751RCV004765309RCV003473149RCV005042098RCV005229834
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) SNV
Germline		 Chr11:36592922 Likely pathogenic Histiocytic medullary reticulosis
Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG2-related disorder
Combined immunodeficiency with skin granulomas
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA214212 rs_193922572

8 SubmittersRCV000030396RCV000788782RCV000681591RCV001389165RCV003407371RCV003473150RCV003991463
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) SNV
Germline		 Chr11:36592860 Likely pathogenic not specified
Condition: not provided
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA214215 rs_193922573

6 SubmittersRCV000030397RCV000413563RCV000681592RCV003991464RCV005042099RCV003473151
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) SNV
Germline		 Chr11:36593952 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Reviewed By Expert Panel
 CA214218 rs_193922574

7 SubmittersRCV001059752RCV001731320RCV001831615RCV003325303RCV003473152RCV005049396
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) SNV
Germline		 Chr11:36574533 Pathogenic/Likely pathogenic Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219791 rs_199474684

4 SubmittersRCV000059559RCV002283452RCV005430963RCV002513782
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) SNV
Germline		 Chr11:36574607 Pathogenic/Likely pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease
RAG1-related disorder
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219797 rs_141524540

8 SubmittersRCV000059561RCV001069679RCV000762842RCV001804802RCV004734624RCV003474644
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) SNV
Germline		 Chr11:36574725 Pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219809 rs_199474686

7 SubmittersRCV000059565RCV000791763RCV001731478RCV002284360RCV002498351RCV003474647
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) SNV
Germline		 Chr11:36575175 Pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219818 rs_199474680

4 SubmittersRCV000059568RCV001381393RCV003474649RCV005042180
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) SNV
Germline		 Chr11:36575399 Likely pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Recombinase activating gene 1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency		 Reviewed By Expert Panel
 CA219824 rs_199474676

10 SubmittersRCV000059570RCV000548870RCV001293030RCV001729376RCV004765313RCV005042181RCV003474650
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) SNV
Germline		 Chr11:36576228 Pathogenic/Likely pathogenic Condition: not provided
Severe combined immunodeficiency disease
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219836 rs_150739647

7 SubmittersRCV000059574RCV000780682RCV001384587RCV003474652RCV005042182
NM_000536.4(RAG2):c.418C>T (p.His140Tyr) SNV
Germline		 Chr11:36593751 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 rs_147155709

2 SubmittersRCV005225063RCV005610823
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) SNV
Germline		 Chr11:36574742 Conflicting classifications of pathogenicity Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA235827 rs_772340017

4 SubmittersRCV000171192RCV001852063RCV003993851RCV005049455
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) SNV
Germline		 Chr11:36575309 Pathogenic/Likely pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10581269 rs_878853004

3 SubmittersRCV000223999RCV003765454RCV005044465
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) SNV
Germline		 Chr10:14919793 Conflicting classifications of pathogenicity Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5416547 rs_143782439

6 SubmittersRCV000302818RCV000373590RCV001084672
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) SNV
Germline		 Chr10:14908996 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency		 Criteria Provided
Conflicting Classifications
 CA5416467 rs_114767681

3 SubmittersRCV000263854RCV000883929RCV001833428
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=) SNV
Germline		 Chr10:14935543 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA10631287 rs_886046850

2 SubmittersRCV000360606RCV001417220
NM_000536.4(RAG2):c.140A>T (p.His47Leu) SNV
Germline		 Chr11:36594029 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950619 rs_776913146

2 SubmittersRCV000356700RCV000299706RCV002520718
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) SNV
Germline		 Chr10:14928018 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5416650 rs_774772480

3 SubmittersRCV000386471RCV000920226
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) SNV
Germline		 Chr10:14909119 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5416493 rs_144654282

5 SubmittersRCV000316668RCV000552062RCV001172032
NM_000448.3(RAG1):c.592A>C (p.Arg198=) SNV
Germline		 Chr11:36573896 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG1-related disorder		 Criteria Provided
Conflicting Classifications
 CA5950014 rs_746425890

3 SubmittersRCV000350023RCV000406889RCV002056200RCV004544513
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp) SNV
Germline		 Chr11:36574671 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950132 rs_201779957

2 SubmittersRCV000260296RCV000354119RCV001445356
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) SNV
Germline		 Chr11:36592652 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950401 rs_144812762

2 SubmittersRCV000268156RCV000320901RCV001247256
NM_000536.4(RAG2):c.63G>A (p.Leu21=) SNV
Germline		 Chr11:36594106 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950627 rs_142797325

3 SubmittersRCV000259547RCV000317157RCV000898892
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) SNV
Germline		 Chr11:36576278 Pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
RAG1-related disorder
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042785 rs_539590514

6 SubmittersRCV000414066RCV000542154RCV003476001RCV004735502RCV005407086RCV005044626
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) SNV
Germline		 Chr11:36576285 Conflicting classifications of pathogenicity Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
not specified
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5950346 rs_775412266

4 SubmittersRCV000412932RCV000687603RCV005431648RCV005044627
NM_000536.4(RAG2):c.518A>G (p.Asn173Ser) SNV
Germline		 Chr11:36593651 Conflicting classifications of pathogenicity Condition: not provided
not specified
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950561 rs_766735610

3 SubmittersRCV000412743RCV004689729RCV005044628
NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) SNV
Germline		 Chr11:36593690 Conflicting classifications of pathogenicity Condition: not provided
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5950568 rs_756694972

2 SubmittersRCV000479386RCV000681582
NM_000448.3(RAG1):c.335G>A (p.Arg112His) SNV
Germline		 Chr11:36573639 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5949966 rs_749223640

4 SubmittersRCV000645684RCV000489989RCV003476177RCV005044737
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) SNV
Germline		 Chr11:36593976 Likely pathogenic Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Recombinase activating gene 2 deficiency		 Reviewed By Expert Panel
 CA380144219 rs_909264507

6 SubmittersRCV000489480RCV000681576RCV002496885RCV002526041RCV003226307RCV003403136
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) SNV
Germline		 Chr11:36592778 Conflicting classifications of pathogenicity Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950422 rs_147748696

4 SubmittersRCV000497469RCV001104243RCV001086733RCV001104244
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) SNV
Germline		 Chr11:36592665 Conflicting classifications of pathogenicity Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified
RAG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5950404 rs_145614809

10 SubmittersRCV000681604RCV001579122RCV001653875RCV000645688RCV000669183RCV001103958RCV001103959RCV002282190RCV003925510
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter) SNV
Germline		 Chr11:36574303 Pathogenic Condition: not provided
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 1 deficiency		 Reviewed By Expert Panel
 CA220600683 rs_902350422

4 SubmittersRCV000521773RCV005367367RCV003766940RCV004765334
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) SNV
Germline		 Chr11:36593574 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 CA5950551 rs_748727021

2 SubmittersRCV000547792RCV001834778
NM_000448.3(RAG1):c.2799A>G (p.Gly933=) SNV
Germline		 Chr11:36576103 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
not specified		 Criteria Provided
Conflicting Classifications
 CA5950324 rs_769375583

3 SubmittersRCV000542779RCV001106547RCV001106548RCV005239184
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) SNV
Germline		 Chr11:36575875 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5950290 rs_141560248

7 SubmittersRCV000544855RCV000602577RCV001105406RCV001105405RCV001703201
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) SNV
Germline		 Chr11:36575993 Pathogenic Condition: not provided
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220564442 rs_757797994

5 SubmittersRCV000579006RCV001041560RCV001731796RCV002491148RCV003471920
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) SNV
Germline		 Chr11:36592794 Likely pathogenic Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380140499 rs_1204766339

3 SubmittersRCV000681600RCV001378887RCV001834862
NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr) SNV
Germline		 Chr11:36592803 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Single Submitter
 CA380140519 rs_1564995611

1 SubmittersRCV000681599
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) SNV
Germline		 Chr11:36592812 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Recombinase activating gene 2 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Reviewed By Expert Panel
 CA380140542 rs_1564995627

5 SubmittersRCV000681598RCV003403379RCV001389163RCV001834861RCV005044876
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) SNV
Germline		 Chr11:36592837 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity
Severe combined immunodeficiency, B cell-negative		 Reviewed By Expert Panel
 CA380140600 rs_1564995662

4 SubmittersRCV001331311RCV003991476RCV000681595RCV004527390
NM_000536.4(RAG2):c.1329G>T (p.Met443Ile) SNV
Germline		 Chr11:36592840 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Single Submitter
 CA380140608 rs_773710101

1 SubmittersRCV000681594
NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn) SNV
Germline		 Chr11:36592849 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Single Submitter
 CA5950436 rs_754413772

1 SubmittersRCV000681593
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) SNV
Germline		 Chr11:36593484 Pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA5950542 rs_765298019

6 SubmittersRCV000681587RCV003991475RCV001273255RCV001042148RCV005420216RCV003471948
NM_000536.4(RAG2):c.470G>T (p.Gly157Val) SNV
Germline		 Chr11:36593699 Likely pathogenic Histiocytic medullary reticulosis
Recombinase activating gene 2 deficiency
Inborn error of immunity		 Criteria Provided
Single Submitter
 CA380142919 rs_1564997121

1 SubmittersRCV000681581
NM_000536.4(RAG2):c.218G>A (p.Arg73His) SNV
Germline		 Chr11:36593951 Conflicting classifications of pathogenicity Immunodeficiency 104
Histiocytic medullary reticulosis
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
Recombinase activating gene 2 deficiency
Inborn error of immunity
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950607 rs_762407838

6 SubmittersRCV001815003RCV000681577RCV002530946RCV003471947RCV000626255RCV005044875
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) SNV
Germline		 Chr11:36594065 Pathogenic/Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Recombinase activating gene 2 deficiency
Inborn error of immunity
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
RAG2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380144622 rs_148508754

6 SubmittersRCV000681572RCV001834860RCV001219165RCV003471946RCV005056255RCV003420026
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) SNV
Germline		 Chr11:36576320 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
not specified
RAG1-related disorder
Histiocytic medullary reticulosis
Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950353 rs_139113046

7 SubmittersRCV001108725RCV000645690RCV001805777RCV004533380RCV001108724RCV001544721RCV005392216
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) SNV
Germline		 Chr11:36592901 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 CA5950444 rs_768567592

2 SubmittersRCV000645685RCV001835894
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) SNV
Germline		 Chr11:36575652 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950251 rs_754502950

3 SubmittersRCV000695106RCV000768065RCV003472218
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) SNV
Germline		 Chr11:36573728 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Recombinase activating gene 1 deficiency		 Reviewed By Expert Panel
 CA5949977 rs_773929270

6 SubmittersRCV000768299RCV000988528RCV002250692RCV001869060RCV003472289RCV003396335
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) SNV
Germline		 Chr10:14932880 Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376058366 rs_1589050343

2 SubmittersRCV000824500RCV003467525
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) SNV
Germline		 Chr11:36574298 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950082 rs_568867325

3 SubmittersRCV000804696RCV003472380RCV005047087
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) SNV
Germline		 Chr11:36574484 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380151733 rs_1590702874

6 SubmittersRCV000817355RCV001575075RCV003473497RCV005047106RCV004813142
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) SNV
Germline		 Chr11:36592773 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Condition: not provided
not specified
Recombinase activating gene 2 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Reviewed By Expert Panel
 CA380140455 rs_1590713653

7 SubmittersRCV000806149RCV001104241RCV001104242RCV003480843RCV004526778RCV003492174RCV005049699
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) SNV
Germline		 Chr10:14908900 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5416450 rs_529177486

3 SubmittersRCV000877167RCV001102549
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) SNV
Germline		 Chr11:36593802 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5950585 rs_147319483

5 SubmittersRCV000874937RCV001104353RCV001104352RCV001331313RCV003224483
NM_000536.4(RAG2):c.477C>T (p.Arg159=) SNV
Germline		 Chr11:36593692 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
not specified
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
RAG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5950569 rs_141659100

5 SubmittersRCV000954539RCV001175480RCV001104350RCV001104351RCV003943067
NM_000448.3(RAG1):c.276C>T (p.His92=) SNV
Germline		 Chr11:36573580 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5949940 rs_550985019

2 SubmittersRCV001103312RCV001103311RCV001468010
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) SNV
Germline		 Chr10:14908885 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5416448 rs_61745540

3 SubmittersRCV000919657RCV001102548
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=) SNV
Germline		 Chr10:14932893 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5416702 rs_369844484

3 SubmittersRCV000912604RCV001107234RCV005231959
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) SNV
Germline		 Chr5:35867349 Likely pathogenic Histiocytic medullary reticulosis
Immunodeficiency 104
Condition: not provided
IL7R-related disorder		 Reviewed By Expert Panel
 CA3231898 rs_141698985

5 SubmittersRCV000991308RCV001869366RCV001726410RCV003898007
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) SNV
Germline		 Chr10:14936548 Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA376061152 rs_1839957089

3 SubmittersRCV001057519RCV003467786
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) SNV
Germline		 Chr11:36574532 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950115 rs_758288006

4 SubmittersRCV001065315RCV002282448RCV005432562RCV003473687
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) SNV
Germline		 Chr11:36575579 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950239 rs_749027430

3 SubmittersRCV001065314RCV002497461RCV003473686
NM_000536.4(RAG2):c.419A>G (p.His140Arg) SNV
Germline		 Chr11:36593750 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
not specified		 Criteria Provided
Conflicting Classifications
 CA380143161 rs_1335036396

3 SubmittersRCV001046638RCV001832439RCV004702599
NM_001033855.3(DCLRE1C):c.464+1G>A SNV
Germline		 Chr10:14935462 Pathogenic Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376060024 rs_1162344514

3 SubmittersRCV001092477RCV001386144RCV004570319
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) SNV
Germline		 Chr11:36575450 Pathogenic/Likely pathogenic Condition: not provided
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950218 rs_199776076

5 SubmittersRCV001091953RCV002557957RCV005049767RCV003473710
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=) SNV
Germline		 Chr10:14928063 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5416657 rs_764386986

2 SubmittersRCV001107232RCV001451669
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=) SNV
Germline		 Chr10:14932908 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5416705 rs_778439805

2 SubmittersRCV001107235RCV001458321
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=) SNV
Germline		 Chr10:14953984 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5417047 rs_756715291

2 SubmittersRCV001102652RCV001446899
NM_000448.3(RAG1):c.597C>T (p.Asn199=) SNV
Germline		 Chr11:36573901 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950016 rs_148288583

2 SubmittersRCV001108565RCV001108564RCV002069771
NM_000448.3(RAG1):c.831G>A (p.Lys277=) SNV
Germline		 Chr11:36574135 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA474031507 rs_1376996089

2 SubmittersRCV001103396RCV001103397RCV003769081
NM_000536.4(RAG2):c.1209T>C (p.Asn403=) SNV
Germline		 Chr11:36592960 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA474032805 rs_1351286949

2 SubmittersRCV001104246RCV001104245RCV001419564
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) SNV
Germline		 Chr11:36593095 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950480 rs_557047531

3 SubmittersRCV001107674RCV001107673RCV001519036
NM_000536.4(RAG2):c.174G>A (p.Lys58=) SNV
Germline		 Chr11:36593995 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950612 rs_202020106

2 SubmittersRCV001104355RCV001104354RCV001458719
NM_001033855.3(DCLRE1C):c.306+14A>G SNV
Germline		 Chr10:14939796 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5416926 rs_571280873

2 SubmittersRCV001102649RCV002069714
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) SNV
Germline		 Chr11:36592879 Likely pathogenic Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380140688 rs_1434362838

3 SubmittersRCV003473774RCV001220928RCV002491690
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) SNV
Germline		 Chr10:14909222 Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376076429 rs_1354336544

2 SubmittersRCV001232221RCV003469418
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) SNV
Germline		 Chr11:36592677 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
RAG2-related disorder
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA5950406 rs_373151027

5 SubmittersRCV001228693RCV001833977RCV003918788RCV005040056
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) SNV
Germline		 Chr10:14908497 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Conflicting Classifications
 CA5416354 rs_200693133

4 SubmittersRCV001241274RCV001828972RCV002499401
NM_001033855.3(DCLRE1C):c.109+1G>T SNV
Germline		 Chr10:14953901 Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Reviewed By Expert Panel
 CA5417032 rs_143144732

5 SubmittersRCV001245169RCV001829948RCV003469469RCV005036528
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln) SNV
Germline		 Chr11:36574824 Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Conflicting Classifications
 CA5950145 rs_143969029

3 SubmittersRCV001267786RCV005050313
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) SNV
Germline		 Chr11:36592802 Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA380140517 rs_1479440369

3 SubmittersRCV001300504RCV001835435RCV005040143
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) SNV
Germline		 Chr11:36594059 Conflicting classifications of pathogenicity Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Conflicting Classifications
 CA380144592 rs_1851104914

2 SubmittersRCV001331310RCV003227961
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) SNV
Germline		 Chr10:14953964 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Reviewed By Expert Panel
 CA376065954 rs_1317003987

4 SubmittersRCV001381226RCV003462975RCV005429351
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) SNV
Germline		 Chr11:36574515 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Condition: not provided
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950114 rs_750055861

10 SubmittersRCV001385111RCV002488205RCV001579945RCV003473957RCV005432700
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) SNV
Germline		 Chr11:36593727 Pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Condition: not provided
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380143053 rs_1315729938

4 SubmittersRCV001386499RCV001826170RCV003394023RCV003473967
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) SNV
Germline		 Chr10:14935471 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5416842 rs_140176235

2 SubmittersRCV001465810RCV001563934
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) SNV
Germline		 Chr10:14934487 Pathogenic Condition: not provided
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Reviewed By Expert Panel
 CA5416778 rs_752655158

5 SubmittersRCV001780611RCV003470900RCV002034546RCV002506822
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) SNV
Germline		 Chr11:36593694 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas
Condition: not provided
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950570 rs_764485070

6 SubmittersRCV001824243RCV001869833RCV002503333RCV003475102RCV004720949RCV005432805
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) SNV
Germline		 Chr10:14928117 Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376056037 rs_1346260747

2 SubmittersRCV001867593RCV004571458
NM_001033855.3(DCLRE1C):c.465-2A>C SNV
Germline		 Chr10:14934777 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376060019 rs_1839625956

3 SubmittersRCV002012801RCV003471244RCV005042657
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) SNV
Germline		 Chr10:14953916 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Aicardi-Goutieres syndrome 1
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Reviewed By Expert Panel
 CA203404964 rs_969498121

5 SubmittersRCV001965262RCV003471090RCV004577007RCV004526885RCV004542188RCV005042564
NM_001033855.3(DCLRE1C):c.306+2T>A SNV
Germline		 Chr10:14939808 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376062129 rs_2131026813

3 SubmittersRCV001998114RCV005042616RCV003471205
NM_001033855.3(DCLRE1C):c.247-2A>G SNV
Germline		 Chr10:14939871 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376062499 rs_2131027694

2 SubmittersRCV001963645RCV005032033
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter) SNV
Germline		 Chr11:36573560 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA380146160 rs_2494750713

1 SubmittersRCV002283780
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter) SNV
Germline		 Chr11:36573844 Likely pathogenic Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380146775 rs_2494752085

3 SubmittersRCV002283898RCV003475328RCV005042783
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr) SNV
Germline		 Chr10:14936538 Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications
 CA5416891 rs_747171418

2 SubmittersRCV003058246RCV005034606
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln) SNV
Germline		 Chr11:36575826 Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Condition: not provided
Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950278 rs_748296558

5 SubmittersRCV003062360RCV003130813RCV003317640RCV003475495RCV005045199
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp) SNV
Germline		 Chr11:36575649 Likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220601518 rs_200300629

4 SubmittersRCV003108847RCV004572850RCV004701001RCV005051260
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn) SNV
Germline		 Chr11:36593516 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380142392 rs_2494794434

2 SubmittersRCV002851216RCV005045007
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu) SNV
Germline		 Chr11:36593885 Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Single Submitter
 CA380143798 rs_2494798051

2 SubmittersRCV002958786RCV005608814
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys) SNV
Germline		 Chr11:36575513 Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5950227 rs_760816389

4 SubmittersRCV003475554RCV003779861RCV005433371RCV005047483
NM_000448.3(RAG1):c.2918G>A (p.Arg973His) SNV
Germline		 Chr11:36576222 Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency disease
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380135994 rs_1384545687

4 SubmittersRCV003472557RCV005438178RCV003779081RCV005047610
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter) SNV
Germline		 Chr11:36593690 Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380142890 rs_756694972

3 SubmittersRCV003471783RCV005047613RCV003779087
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter) SNV
Unknown		 Chr10:14909163 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376076031 rs_2491633975

1 SubmittersRCV003459953
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter) SNV
Unknown		 Chr10:14935511 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376060124 rs_2492040094

1 SubmittersRCV003466116
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter) SNV
Unknown		 Chr10:14934382 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376059354 rs_1564438804

1 SubmittersRCV003466118
NM_001033855.3(DCLRE1C):c.464+2T>C SNV
Unknown		 Chr10:14935461 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376060021 rs_2492038028

1 SubmittersRCV003466120
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter) SNV
Unknown		 Chr10:14908710 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376074631 rs_1250826419

1 SubmittersRCV003459955
NM_001033855.3(DCLRE1C):c.678+1G>A SNV
Unknown		 Chr10:14934379 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376059348 rs_2492023846

1 SubmittersRCV003466130
NM_001033855.3(DCLRE1C):c.246+2T>G SNV
Unknown		 Chr10:14945103 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 CA376063108 rs_2492298473

1 SubmittersRCV003466132
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter) SNV
Germline		 Chr11:36573916 Pathogenic Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis
Severe combined immunodeficiency disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380147121 rs_1199316807

3 SubmittersRCV003803268RCV005040525RCV005407254
NM_001033855.3(DCLRE1C):c.678+2T>G SNV
Germline		 Chr10:14934378 Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA376059345 rs_1215422400

2 SubmittersRCV003856886RCV004573367
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa) SNV
Germline		 Chr10:14919809 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_755182961

1 SubmittersRCV003983751
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter) SNV
Unknown		 Chr10:14908713 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2491621783

1 SubmittersRCV004575765
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter) SNV
Unknown		 Chr10:14908974 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2491629802

1 SubmittersRCV004575771
NM_001033855.3(DCLRE1C):c.306+1G>A SNV
Unknown		 Chr10:14939809 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2492173028

1 SubmittersRCV004575772
NM_001033855.3(DCLRE1C):c.973-1G>A SNV
Unknown		 Chr10:14923070 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2491846909

1 SubmittersRCV004575773
NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter) SNV
Unknown		 Chr10:14928054 Pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2491946964

1 SubmittersRCV004575775
NM_001033855.3(DCLRE1C):c.538-1G>A SNV
Unknown		 Chr10:14934521 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2492025655

1 SubmittersRCV004575777
NM_001033855.3(DCLRE1C):c.1156+1G>A SNV
Unknown		 Chr10:14919737 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2491772724

1 SubmittersRCV004575778
NM_001033855.3(DCLRE1C):c.679-1G>A SNV
Germline		 Chr10:14932956 Likely pathogenic Histiocytic medullary reticulosis Criteria Provided
Single Submitter
 rs_2130918080

1 SubmittersRCV004577290
NM_000448.3(RAG1):c.1208C>T (p.Thr403Ile) SNV
Germline		 Chr11:36574512 Conflicting classifications of pathogenicity Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
not specified		 Criteria Provided
Conflicting Classifications
 rs_2494754990

3 SubmittersRCV005040707RCV005216265RCV004586168
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val) SNV
Germline		 Chr10:14936547 Pathogenic/Likely pathogenic Severe combined immunodeficiency disease
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1839956628

2 SubmittersRCV004586189RCV005038726
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe) SNV
Germline		 Chr11:36575493 Likely pathogenic Severe combined immunodeficiency disease
Combined immunodeficiency due to partial RAG1 deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_770771227

2 SubmittersRCV004586278RCV005040708
NM_000536.4(RAG2):c.1442A>T (p.His481Leu) SNV
Germline		 Chr11:36592727 Conflicting classifications of pathogenicity not specified
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Histiocytic medullary reticulosis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004689536RCV005040752
NM_000448.3(RAG1):c.2263G>T (p.Glu755Ter) SNV
Germline		 Chr11:36575567 Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046750
NM_000536.4(RAG2):c.1369C>T (p.Gln457Ter) SNV
Germline		 Chr11:36592800 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046752
NM_000536.4(RAG2):c.1340C>G (p.Ser447Cys) SNV
Germline		 Chr11:36592829 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046753
NM_000536.4(RAG2):c.1019C>A (p.Ser340Ter) SNV
Germline		 Chr11:36593150 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046755
NM_000536.4(RAG2):c.921G>A (p.Trp307Ter) SNV
Germline		 Chr11:36593248 Pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046757
NM_000536.4(RAG2):c.793C>T (p.Gln265Ter) SNV
Germline		 Chr11:36593376 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005046759
NM_000536.4(RAG2):c.516G>A (p.Trp172Ter) SNV
Germline		 Chr11:36593653 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas		 Criteria Provided
Single Submitter

1 SubmittersRCV005050116
NM_001033855.3(DCLRE1C):c.368T>A (p.Leu123Ter) SNV
Germline		 Chr10:14935559 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV005033148
NM_001033855.3(DCLRE1C):c.329T>G (p.Leu110Arg) SNV
Germline		 Chr10:14936571 Likely pathogenic Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency		 Criteria Provided
Single Submitter

1 SubmittersRCV005043088
NM_000536.4(RAG2):c.284G>T (p.Gly95Val) SNV
Germline		 Chr11:36593885 Likely pathogenic Histiocytic medullary reticulosis No Assertion Criteria Provided

1 SubmittersRCV005607819