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 SubmittersRCV000004929 RCV000224235 RCV001272780 RCV000762806 RCV003486542 RCV005229764
NM_001033855.3(DCLRE1C):c.972+1G>C	SNV Germline	Chr10:14926842	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	No Assertion Criteria Provided	CA376055674	rs_1564414523	1 SubmittersRCV000004932
NM_001033855.3(DCLRE1C):c.917+1G>A	SNV Germline	Chr10:14928015	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376055808	rs_1564418254	2 SubmittersRCV000004933
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 SubmittersRCV000004934 RCV003466817
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 SubmittersRCV000004937 RCV000703249 RCV000256066 RCV003466818
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 SubmittersRCV000004938 RCV001388406 RCV005031391
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg)	SNV Germline	Chr10:14935524	Likely pathogenic	Condition: not provided Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA235787	rs_786205456	1 SubmittersRCV000171174 RCV003987397
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)	SNV Germline	Chr10:14945157	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA10586373	rs_886037925	3 SubmittersRCV000240844
NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=)	SNV Germline	Chr10:14908825	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA10605111	rs_886043100	2 SubmittersRCV000271324 RCV003105848
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 SubmittersRCV000302818 RCV000373590 RCV001084672
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 SubmittersRCV000263854 RCV000883929 RCV001833428
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 SubmittersRCV000360606 RCV001417220
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)	SNV Germline	Chr13:108208995	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency	Criteria Provided Conflicting Classifications	CA7043533	rs_529756815	2 SubmittersRCV000279874 RCV000372014
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 SubmittersRCV000386471 RCV000920226
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 SubmittersRCV000316668 RCV000552062 RCV001172032
NM_206937.2(LIG4):c.2499T>C (p.Asn833=)	SNV Germline	Chr13:108208770	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency	Criteria Provided Conflicting Classifications	CA7043480	rs_769297575	2 SubmittersRCV000285774 RCV000343104
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)	SNV Germline	Chr13:108211256	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7043910	rs_143590752	3 SubmittersRCV000290093 RCV000347931 RCV002520853
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	SNV Germline	Chr13:108208744	Conflicting classifications of pathogenicity	DNA ligase IV deficiency DNA ligase IV deficiency Multiple myeloma Condition: not provided Severe combined immunodeficiency due to DCLRE1C deficiency not specified LIG4-related disorder	Criteria Provided Conflicting Classifications	CA7043477	rs_72660870	8 SubmittersRCV000272998 RCV000763874 RCV000857399 RCV000383863 RCV001820917 RCV004537756
NM_206937.2(LIG4):c.2222G>A (p.Arg741His)	SNV Germline	Chr13:108209047	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7043543	rs_143767581	4 SubmittersRCV000337673 RCV000393674 RCV003238753 RCV002520851
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)	SNV Germline	Chr13:108209286	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7043571	rs_199638675	3 SubmittersRCV000312009 RCV000350550 RCV003884460
NM_206937.2(LIG4):c.1252T>C (p.Leu418=)	SNV Germline	Chr13:108210017	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency	Criteria Provided Conflicting Classifications	CA7043721	rs_147181971	2 SubmittersRCV000315847 RCV000378553
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)	SNV Germline	Chr13:108210706	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7043827	rs_748385144	3 SubmittersRCV000302024 RCV000359181 RCV000481605 RCV002520852
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)	SNV Germline	Chr13:108210769	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency LIG4-related disorder	Criteria Provided Conflicting Classifications	CA7043833	rs_138021217	3 SubmittersRCV000318407 RCV000356462 RCV004732844
NM_206937.2(LIG4):c.1020A>G (p.Gln340=)	SNV Germline	Chr13:108210249	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA7043762	rs_535025599	2 SubmittersRCV000338575 RCV000386052
NM_206937.2(LIG4):c.285G>A (p.Glu95=)	SNV Germline	Chr13:108210984	Conflicting classifications of pathogenicity	not specified DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7043863	rs_150146196	7 SubmittersRCV000503379 RCV000641093 RCV001111061 RCV001575568
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=)	SNV Germline	Chr10:14935507	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to DCLRE1C deficiency Athabaskan severe combined immunodeficiency	Criteria Provided Conflicting Classifications	CA5416850	rs_146832860	3 SubmittersRCV000727874 RCV001084849 RCV001272392
NM_001033855.3(DCLRE1C):c.1710T>C (p.Ile570=)	SNV Germline	Chr10:14908777	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA5416428	rs_147993236	2 SubmittersRCV000732749 RCV001472108
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 SubmittersRCV000824500 RCV003467525
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)	SNV Germline	Chr10:14934718	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376059856	rs_1340132582	2 SubmittersRCV000814078
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 SubmittersRCV000877167 RCV001102549
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 SubmittersRCV000919657 RCV001102548
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 SubmittersRCV000912604 RCV001107234 RCV005231959
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	SNV Germline	Chr10:14945145	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376063361	rs_1589136659	3 SubmittersRCV000988332
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)	SNV Germline	Chr10:14908995	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376075470	rs_372597855	1 SubmittersRCV001059183
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 SubmittersRCV001057519 RCV003467786
NM_001033855.3(DCLRE1C):c.780+1G>C	SNV Germline	Chr10:14932853	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376058306	rs_1839255008	1 SubmittersRCV001045920
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 SubmittersRCV001092477 RCV001386144 RCV004570319
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 SubmittersRCV001107232 RCV001451669
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 SubmittersRCV001107235 RCV001458321
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 SubmittersRCV001102652 RCV001446899
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 SubmittersRCV001102649 RCV002069714
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)	SNV Germline	Chr13:108209298	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to DCLRE1C deficiency DNA ligase IV deficiency	Criteria Provided Conflicting Classifications	CA7043574	rs_764483419	2 SubmittersRCV001112887 RCV001112886
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)	SNV Germline	Chr13:108209439	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA7043608	rs_768563098	2 SubmittersRCV001114245 RCV001114246
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)	SNV Germline	Chr13:108209559	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA7043632	rs_763222026	2 SubmittersRCV001110223 RCV001114248
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)	SNV Germline	Chr13:108210030	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA484975460	rs_1342090676	2 SubmittersRCV001110971 RCV001110972
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)	SNV Germline	Chr13:108210556	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA7043806	rs_201289944	2 SubmittersRCV001114332 RCV001114333
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)	SNV Germline	Chr10:14909172	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376076102	rs_753674918	1 SubmittersRCV001223880
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 SubmittersRCV001232221 RCV003469418
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 SubmittersRCV001241274 RCV001828972 RCV002499401
NM_001033855.3(DCLRE1C):c.162-1G>T	SNV Germline	Chr10:14945190	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA5416983	rs_149090997	1 SubmittersRCV001230045
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 SubmittersRCV001245169 RCV001829948 RCV003469469 RCV005036528
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	SNV Germline	Chr10:14935521	Likely pathogenic	Severe combined immunodeficiency disease Severe combined immunodeficiency due to DCLRE1C deficiency Athabaskan severe combined immunodeficiency	Reviewed By Expert Panel	CA376060149	rs_1839765652	4 SubmittersRCV001267665 RCV001349774 RCV001835359
NM_001033855.3(DCLRE1C):c.679-1G>T	SNV Germline	Chr10:14932956	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376058540	rs_2130918080	1 SubmittersRCV001378176
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 SubmittersRCV001381226 RCV003462975 RCV005429351
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 SubmittersRCV001465810 RCV001563934
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 SubmittersRCV001780611 RCV003470900 RCV002034546 RCV002506822
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 SubmittersRCV001867593 RCV004571458
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 SubmittersRCV002012801 RCV003471244 RCV005042657
NM_001033855.3(DCLRE1C):c.465-1G>C	SNV Germline	Chr10:14934776	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency Athabaskan severe combined immunodeficiency	Criteria Provided Single Submitter	CA376060015	rs_2130944445	2 SubmittersRCV002028474 RCV005614754
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter)	SNV Germline	Chr10:14909266	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376076696	rs_1296189593	1 SubmittersRCV002037655
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	SNV Germline	Chr10:14945171	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376063520	rs_2131108640	2 SubmittersRCV001905270
NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter)	SNV Germline	Chr10:14909020	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376075535	rs_2131776422	1 SubmittersRCV001879615
NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter)	SNV Germline	Chr10:14908944	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376075359	rs_1419439468	1 SubmittersRCV001883449
NM_001033855.3(DCLRE1C):c.363-2A>G	SNV Germline	Chr10:14935566	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376060366	rs_2130956855	1 SubmittersRCV001990826
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 SubmittersRCV001965262 RCV003471090 RCV004577007 RCV004526885 RCV004542188 RCV005042564
NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter)	SNV Germline	Chr10:14928132	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376056127	rs_2130853055	1 SubmittersRCV001941528
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 SubmittersRCV001998114 RCV005042616 RCV003471205
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 SubmittersRCV001963645 RCV005032033
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)	SNV Germline	Chr10:14909222	Pathogenic/Likely pathogenic	Severe combined immunodeficiency disease Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Multiple Submitters No Conflicts	CA376076431	rs_1354336544	2 SubmittersRCV002271740 RCV003096109
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)	SNV Germline	Chr10:14919747	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA5416545	rs_752241422	3 SubmittersRCV002287294
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)	SNV Germline	Chr10:14935514	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376060130	rs_2492040262	1 SubmittersRCV002287295
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	SNV Germline	Chr10:14936554	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376061171	rs_2492076708	2 SubmittersRCV002302853
NM_001033855.3(DCLRE1C):c.161+2T>G	SNV Germline	Chr10:14949034	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency disease	Reviewed By Expert Panel	CA376064378	rs_2492399115	3 SubmittersRCV002302438 RCV004801193
NM_001033855.3(DCLRE1C):c.1494A>C (p.Glu498Asp)	SNV Germline	Chr10:14908993	Conflicting classifications of pathogenicity	Inborn genetic diseases Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Conflicting Classifications	CA5416466	rs_779242343	2 SubmittersRCV004614325 RCV003076687
NM_001033855.3(DCLRE1C):c.362+2T>A	SNV Germline	Chr10:14936536	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376061089	rs_1413539097	1 SubmittersRCV003062249
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 SubmittersRCV003058246 RCV005034606
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)	SNV Germline	Chr10:14936544	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA5416893	rs_781123663	2 SubmittersRCV003062250
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)	SNV Germline	Chr10:14945140	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376063330	rs_1437892966	1 SubmittersRCV003062251
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)	SNV Germline	Chr10:14953916	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376065642	rs_969498121	2 SubmittersRCV003062252
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)	SNV Germline	Chr10:14953929	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376065726	rs_773046452	2 SubmittersRCV003062253
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)	SNV Germline	Chr10:14908851	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376075157	rs_183622528	1 SubmittersRCV002658792
NM_001033855.3(DCLRE1C):c.306+2T>C	SNV Germline	Chr10:14939808	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376062126	rs_2131026813	1 SubmittersRCV002810776
NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)	SNV Germline	Chr10:14908938	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376075349	rs_2491628823	1 SubmittersRCV002994511
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)	SNV Germline	Chr10:14949057	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Reviewed By Expert Panel	CA376064481	rs_2492399920	2 SubmittersRCV003032800
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)	SNV Germline	Chr10:14936565	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376061192	rs_2492077143	1 SubmittersRCV003043704
NM_001033855.3(DCLRE1C):c.1156+1G>C	SNV Germline	Chr10:14919737	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376078179	rs_2491772724	1 SubmittersRCV003502313
NM_001033855.3(DCLRE1C):c.465-1G>A	SNV Germline	Chr10:14934776	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376060016	rs_2130944445	1 SubmittersRCV003502037
NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)	SNV Germline	Chr10:14928146	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376056216	rs_2491948309	1 SubmittersRCV003503112
NM_001033855.3(DCLRE1C):c.781-1G>A	SNV Germline	Chr10:14928153	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376056798	rs_2491948431	1 SubmittersRCV003503034
NM_001033855.3(DCLRE1C):c.538-1G>C	SNV Germline	Chr10:14934521	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376059729	rs_2492025655	1 SubmittersRCV003612607
NM_001033855.3(DCLRE1C):c.465-2A>G	SNV Germline	Chr10:14934777	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376060018	rs_1839625956	1 SubmittersRCV003612900
NM_001033855.3(DCLRE1C):c.1156+2T>G	SNV Germline	Chr10:14919736	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency Athabaskan severe combined immunodeficiency	Criteria Provided Single Submitter	CA5416544	rs_765047440	2 SubmittersRCV003613072 RCV005616725
NM_001033855.3(DCLRE1C):c.162-2A>C	SNV Germline	Chr10:14945191	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376063614	rs_2492301974	1 SubmittersRCV003613182
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)	SNV Germline	Chr10:14909049	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376075598	rs_2491631758	1 SubmittersRCV003613063
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)	SNV Germline	Chr10:14909217	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376076388	rs_1223502060	1 SubmittersRCV003613512
NM_001033855.3(DCLRE1C):c.537+1G>T	SNV Germline	Chr10:14934702	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376059777	rs_2492028268	1 SubmittersRCV003613482
NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)	SNV Germline	Chr10:14934390	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter	CA376059370	rs_2492024060	1 SubmittersRCV003859003
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 SubmittersRCV003856886 RCV004573367
NM_001033855.3(DCLRE1C):c.1061+1G>A	SNV Germline	Chr10:14922980	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Multiple Submitters No Conflicts	CA376055466	rs_2491844147	2 SubmittersRCV003989253
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 SubmittersRCV004586189 RCV005038726
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_001033855.3(DCLRE1C):c.362+2T>C	SNV Germline	Chr10:14936536	Pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005142662
NM_001033855.3(DCLRE1C):c.1A>G (p.Met1Val)	SNV Germline	Chr10:14954010	Likely pathogenic	Severe combined immunodeficiency due to DCLRE1C deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005200794

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 SubmittersRCV000004929 RCV000224235 RCV001272780 RCV000762806 RCV003486542 RCV005229764

NM_001033855.3(DCLRE1C):c.972+1G>C

SNV
Germline

Chr10:14926842

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

No Assertion Criteria Provided

CA376055674

rs_1564414523

1 SubmittersRCV000004932

NM_001033855.3(DCLRE1C):c.917+1G>A

SNV
Germline

Chr10:14928015

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376055808

rs_1564418254

2 SubmittersRCV000004933

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 SubmittersRCV000004934 RCV003466817

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 SubmittersRCV000004937 RCV000703249 RCV000256066 RCV003466818

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 SubmittersRCV000004938 RCV001388406 RCV005031391

NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg)

SNV
Germline

Chr10:14935524

Likely pathogenic

Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA235787

rs_786205456

1 SubmittersRCV000171174 RCV003987397

NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)

SNV
Germline

Chr10:14945157

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA10586373

rs_886037925

3 SubmittersRCV000240844

NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=)

SNV
Germline

Chr10:14908825

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA10605111

rs_886043100

2 SubmittersRCV000271324 RCV003105848

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 SubmittersRCV000302818 RCV000373590 RCV001084672

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 SubmittersRCV000263854 RCV000883929 RCV001833428

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 SubmittersRCV000360606 RCV001417220

NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)

SNV
Germline

Chr13:108208995

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency

Criteria Provided
Conflicting Classifications

CA7043533

rs_529756815

2 SubmittersRCV000279874 RCV000372014

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 SubmittersRCV000386471 RCV000920226

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 SubmittersRCV000316668 RCV000552062 RCV001172032

NM_206937.2(LIG4):c.2499T>C (p.Asn833=)

SNV
Germline

Chr13:108208770

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency

Criteria Provided
Conflicting Classifications

CA7043480

rs_769297575

2 SubmittersRCV000285774 RCV000343104

NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)

SNV
Germline

Chr13:108211256

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7043910

rs_143590752

3 SubmittersRCV000290093 RCV000347931 RCV002520853

NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)

SNV
Germline

Chr13:108208744

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
DNA ligase IV deficiency
Multiple myeloma
Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
not specified
LIG4-related disorder

Criteria Provided
Conflicting Classifications

CA7043477

rs_72660870

8 SubmittersRCV000272998 RCV000763874 RCV000857399 RCV000383863 RCV001820917 RCV004537756

NM_206937.2(LIG4):c.2222G>A (p.Arg741His)

SNV
Germline

Chr13:108209047

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7043543

rs_143767581

4 SubmittersRCV000337673 RCV000393674 RCV003238753 RCV002520851

NM_206937.2(LIG4):c.1983T>C (p.Asp661=)

SNV
Germline

Chr13:108209286

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7043571

rs_199638675

3 SubmittersRCV000312009 RCV000350550 RCV003884460

NM_206937.2(LIG4):c.1252T>C (p.Leu418=)

SNV
Germline

Chr13:108210017

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency

Criteria Provided
Conflicting Classifications

CA7043721

rs_147181971

2 SubmittersRCV000315847 RCV000378553

NM_206937.2(LIG4):c.563G>A (p.Arg188Gln)

SNV
Germline

Chr13:108210706

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7043827

rs_748385144

3 SubmittersRCV000302024 RCV000359181 RCV000481605 RCV002520852

NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)

SNV
Germline

Chr13:108210769

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
LIG4-related disorder

Criteria Provided
Conflicting Classifications

CA7043833

rs_138021217

3 SubmittersRCV000318407 RCV000356462 RCV004732844

NM_206937.2(LIG4):c.1020A>G (p.Gln340=)

SNV
Germline

Chr13:108210249

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA7043762

rs_535025599

2 SubmittersRCV000338575 RCV000386052

NM_206937.2(LIG4):c.285G>A (p.Glu95=)

SNV
Germline

Chr13:108210984

Conflicting classifications of pathogenicity

not specified
DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7043863

rs_150146196

7 SubmittersRCV000503379 RCV000641093 RCV001111061 RCV001575568

NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=)

SNV
Germline

Chr10:14935507

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency

Criteria Provided
Conflicting Classifications

CA5416850

rs_146832860

3 SubmittersRCV000727874 RCV001084849 RCV001272392

NM_001033855.3(DCLRE1C):c.1710T>C (p.Ile570=)

SNV
Germline

Chr10:14908777

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA5416428

rs_147993236

2 SubmittersRCV000732749 RCV001472108

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 SubmittersRCV000824500 RCV003467525

NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)

SNV
Germline

Chr10:14934718

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376059856

rs_1340132582

2 SubmittersRCV000814078

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 SubmittersRCV000877167 RCV001102549

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 SubmittersRCV000919657 RCV001102548

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 SubmittersRCV000912604 RCV001107234 RCV005231959

NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)

SNV
Germline

Chr10:14945145

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376063361

rs_1589136659

3 SubmittersRCV000988332

NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)

SNV
Germline

Chr10:14908995

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376075470

rs_372597855

1 SubmittersRCV001059183

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 SubmittersRCV001057519 RCV003467786

NM_001033855.3(DCLRE1C):c.780+1G>C

SNV
Germline

Chr10:14932853

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376058306

rs_1839255008

1 SubmittersRCV001045920

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 SubmittersRCV001092477 RCV001386144 RCV004570319

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 SubmittersRCV001107232 RCV001451669

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 SubmittersRCV001107235 RCV001458321

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 SubmittersRCV001102652 RCV001446899

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 SubmittersRCV001102649 RCV002069714

NM_206937.2(LIG4):c.1971T>C (p.Asn657=)

SNV
Germline

Chr13:108209298

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to DCLRE1C deficiency
DNA ligase IV deficiency

Criteria Provided
Conflicting Classifications

CA7043574

rs_764483419

2 SubmittersRCV001112887 RCV001112886

NM_206937.2(LIG4):c.1830C>T (p.Leu610=)

SNV
Germline

Chr13:108209439

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA7043608

rs_768563098

2 SubmittersRCV001114245 RCV001114246

NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)

SNV
Germline

Chr13:108209559

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA7043632

rs_763222026

2 SubmittersRCV001110223 RCV001114248

NM_206937.2(LIG4):c.1239A>G (p.Glu413=)

SNV
Germline

Chr13:108210030

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA484975460

rs_1342090676

2 SubmittersRCV001110971 RCV001110972

NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)

SNV
Germline

Chr13:108210556

Conflicting classifications of pathogenicity

DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA7043806

rs_201289944

2 SubmittersRCV001114332 RCV001114333

NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)

SNV
Germline

Chr10:14909172

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376076102

rs_753674918

1 SubmittersRCV001223880

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 SubmittersRCV001232221 RCV003469418

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 SubmittersRCV001241274 RCV001828972 RCV002499401

NM_001033855.3(DCLRE1C):c.162-1G>T

SNV
Germline

Chr10:14945190

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA5416983

rs_149090997

1 SubmittersRCV001230045

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 SubmittersRCV001245169 RCV001829948 RCV003469469 RCV005036528

NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)

SNV
Germline

Chr10:14935521

Likely pathogenic

Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency

Reviewed By Expert Panel

CA376060149

rs_1839765652

4 SubmittersRCV001267665 RCV001349774 RCV001835359

NM_001033855.3(DCLRE1C):c.679-1G>T

SNV
Germline

Chr10:14932956

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376058540

rs_2130918080

1 SubmittersRCV001378176

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 SubmittersRCV001381226 RCV003462975 RCV005429351

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 SubmittersRCV001465810 RCV001563934

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 SubmittersRCV001780611 RCV003470900 RCV002034546 RCV002506822

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 SubmittersRCV001867593 RCV004571458

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 SubmittersRCV002012801 RCV003471244 RCV005042657

NM_001033855.3(DCLRE1C):c.465-1G>C

SNV
Germline

Chr10:14934776

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency

Criteria Provided
Single Submitter

CA376060015

rs_2130944445

2 SubmittersRCV002028474 RCV005614754

NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter)

SNV
Germline

Chr10:14909266

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376076696

rs_1296189593

1 SubmittersRCV002037655

NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)

SNV
Germline

Chr10:14945171

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376063520

rs_2131108640

2 SubmittersRCV001905270

NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter)

SNV
Germline

Chr10:14909020

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376075535

rs_2131776422

1 SubmittersRCV001879615

NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter)

SNV
Germline

Chr10:14908944

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376075359

rs_1419439468

1 SubmittersRCV001883449

NM_001033855.3(DCLRE1C):c.363-2A>G

SNV
Germline

Chr10:14935566

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376060366

rs_2130956855

1 SubmittersRCV001990826

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 SubmittersRCV001965262 RCV003471090 RCV004577007 RCV004526885 RCV004542188 RCV005042564

NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter)

SNV
Germline

Chr10:14928132

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376056127

rs_2130853055

1 SubmittersRCV001941528

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 SubmittersRCV001998114 RCV005042616 RCV003471205

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 SubmittersRCV001963645 RCV005032033

NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)

SNV
Germline

Chr10:14909222

Pathogenic/Likely pathogenic

Severe combined immunodeficiency disease
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA376076431

rs_1354336544

2 SubmittersRCV002271740 RCV003096109

NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)

SNV
Germline

Chr10:14919747

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA5416545

rs_752241422

3 SubmittersRCV002287294

NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)

SNV
Germline

Chr10:14935514

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376060130

rs_2492040262

1 SubmittersRCV002287295

NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)

SNV
Germline

Chr10:14936554

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376061171

rs_2492076708

2 SubmittersRCV002302853

NM_001033855.3(DCLRE1C):c.161+2T>G

SNV
Germline

Chr10:14949034

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency disease

Reviewed By Expert Panel

CA376064378

rs_2492399115

3 SubmittersRCV002302438 RCV004801193

NM_001033855.3(DCLRE1C):c.1494A>C (p.Glu498Asp)

SNV
Germline

Chr10:14908993

Conflicting classifications of pathogenicity

Inborn genetic diseases
Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Conflicting Classifications

CA5416466

rs_779242343

2 SubmittersRCV004614325 RCV003076687

NM_001033855.3(DCLRE1C):c.362+2T>A

SNV
Germline

Chr10:14936536

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376061089

rs_1413539097

1 SubmittersRCV003062249

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 SubmittersRCV003058246 RCV005034606

NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)

SNV
Germline

Chr10:14936544

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA5416893

rs_781123663

2 SubmittersRCV003062250

NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)

SNV
Germline

Chr10:14945140

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376063330

rs_1437892966

1 SubmittersRCV003062251

NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)

SNV
Germline

Chr10:14953916

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376065642

rs_969498121

2 SubmittersRCV003062252

NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)

SNV
Germline

Chr10:14953929

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376065726

rs_773046452

2 SubmittersRCV003062253

NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)

SNV
Germline

Chr10:14908851

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376075157

rs_183622528

1 SubmittersRCV002658792

NM_001033855.3(DCLRE1C):c.306+2T>C

SNV
Germline

Chr10:14939808

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376062126

rs_2131026813

1 SubmittersRCV002810776

NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)

SNV
Germline

Chr10:14908938

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376075349

rs_2491628823

1 SubmittersRCV002994511

NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)

SNV
Germline

Chr10:14949057

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Reviewed By Expert Panel

CA376064481

rs_2492399920

2 SubmittersRCV003032800

NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)

SNV
Germline

Chr10:14936565

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376061192

rs_2492077143

1 SubmittersRCV003043704

NM_001033855.3(DCLRE1C):c.1156+1G>C

SNV
Germline

Chr10:14919737

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376078179

rs_2491772724

1 SubmittersRCV003502313

NM_001033855.3(DCLRE1C):c.465-1G>A

SNV
Germline

Chr10:14934776

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376060016

rs_2130944445

1 SubmittersRCV003502037

NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)

SNV
Germline

Chr10:14928146

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376056216

rs_2491948309

1 SubmittersRCV003503112

NM_001033855.3(DCLRE1C):c.781-1G>A

SNV
Germline

Chr10:14928153

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376056798

rs_2491948431

1 SubmittersRCV003503034

NM_001033855.3(DCLRE1C):c.538-1G>C

SNV
Germline

Chr10:14934521

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376059729

rs_2492025655

1 SubmittersRCV003612607

NM_001033855.3(DCLRE1C):c.465-2A>G

SNV
Germline

Chr10:14934777

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376060018

rs_1839625956

1 SubmittersRCV003612900

NM_001033855.3(DCLRE1C):c.1156+2T>G

SNV
Germline

Chr10:14919736

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency

Criteria Provided
Single Submitter

CA5416544

rs_765047440

2 SubmittersRCV003613072 RCV005616725

NM_001033855.3(DCLRE1C):c.162-2A>C

SNV
Germline

Chr10:14945191

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376063614

rs_2492301974

1 SubmittersRCV003613182

NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)

SNV
Germline

Chr10:14909049

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376075598

rs_2491631758

1 SubmittersRCV003613063

NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)

SNV
Germline

Chr10:14909217

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376076388

rs_1223502060

1 SubmittersRCV003613512

NM_001033855.3(DCLRE1C):c.537+1G>T

SNV
Germline

Chr10:14934702

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376059777

rs_2492028268

1 SubmittersRCV003613482

NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)

SNV
Germline

Chr10:14934390

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

CA376059370

rs_2492024060

1 SubmittersRCV003859003

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 SubmittersRCV003856886 RCV004573367

NM_001033855.3(DCLRE1C):c.1061+1G>A

SNV
Germline

Chr10:14922980

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA376055466

rs_2491844147

2 SubmittersRCV003989253

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 SubmittersRCV004586189 RCV005038726

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_001033855.3(DCLRE1C):c.362+2T>C

SNV
Germline

Chr10:14936536

Pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005142662

NM_001033855.3(DCLRE1C):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:14954010

Likely pathogenic

Severe combined immunodeficiency due to DCLRE1C deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005200794