Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_032415.7(CARD11):c.401A>G (p.Glu134Gly)	SNV Germline	Chr7:2944495	Pathogenic	BENTA disease	No Assertion Criteria Provided	CA143684	rs_387907351	1 SubmittersRCV000041968
NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)	SNV Germline	Chr7:2944529	Pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Splenomegaly Osteopenia Asthma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143685	rs_387907352	5 SubmittersRCV000041969 RCV001057931 RCV002243689 RCV002512055
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)	SNV Germline	Chr7:2930050	Conflicting classifications of pathogenicity	not specified Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Conflicting Classifications	CA157808	rs_201780608	5 SubmittersRCV000120438 RCV000788264 RCV001085809
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)	SNV Germline	Chr7:2923155	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Immunodeficiency 11b with atopic dermatitis Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA157818	rs_143049136	5 SubmittersRCV000707585 RCV002492420 RCV004019674 RCV004808581 RCV000120443
NM_032415.7(CARD11):c.3139G>A (p.Ala1047Thr)	SNV Germline	Chr7:2912177	Conflicting classifications of pathogenicity	not specified Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided	Criteria Provided Conflicting Classifications	CA157838	rs_146334064	4 SubmittersRCV000120453 RCV000804742 RCV001532093
NM_032415.7(CARD11):c.572A>G (p.Asn191Ser)	SNV Germline	Chr7:2944324	Conflicting classifications of pathogenicity	not specified Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided	Criteria Provided Conflicting Classifications	CA157842	rs_147264763	4 SubmittersRCV000120455 RCV000704118 RCV001532097
NM_032415.7(CARD11):c.368G>A (p.Gly123Asp)	SNV Germline	Chr7:2944528	Pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter	CA185998	rs_571517554	2 SubmittersRCV000162028 RCV001850281
NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr)	SNV Germline	Chr7:2947649	Pathogenic	BENTA disease BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter	CA203896	rs_794729673	2 SubmittersRCV000185616 RCV001390618
NM_032415.7(CARD11):c.2900G>A (p.Arg967His)	SNV Germline	Chr7:2913406	Conflicting classifications of pathogenicity	Condition: not provided BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications	CA4131936	rs_141751925	2 SubmittersRCV000441026 RCV001368304
NM_032415.7(CARD11):c.2923C>T (p.Arg975Trp)	SNV Germline	Chr7:2913383	Conflicting classifications of pathogenicity	Condition: not provided Immunodeficiency 11b with atopic dermatitis Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Conflicting Classifications	CA16618450	rs_1064795307	3 SubmittersRCV000484392 RCV000499590 RCV003766695
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)	SNV Germline	Chr7:2945953	Conflicting classifications of pathogenicity	Condition: not provided BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications	CA16618451	rs_1064795280	4 SubmittersRCV000726904 RCV002526603
NM_032415.7(CARD11):c.3145-3C>T	SNV Germline	Chr7:2910168	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency BENTA disease not specified	Criteria Provided Conflicting Classifications	CA4131809	rs_200456391	7 SubmittersRCV000551661 RCV000788537 RCV000853282 RCV001262448 RCV001821609
NM_032415.7(CARD11):c.388T>A (p.Phe130Ile)	SNV Germline	Chr7:2944508	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA366647263	rs_1554276147	2 SubmittersRCV000540112 RCV003456414
NM_032415.7(CARD11):c.88C>T (p.Arg30Trp)	SNV Germline	Chr7:2947707	Pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided Immunodeficiency 11b with atopic dermatitis	Criteria Provided Multiple Submitters No Conflicts	CA366647967	rs_145474800	3 SubmittersRCV000528697 RCV000788795 RCV002285361
NM_032415.7(CARD11):c.3063G>C (p.Glu1021Asp)	SNV Germline	Chr7:2912253	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4131863	rs_375727923	2 SubmittersRCV000534473 RCV001532094
NM_032415.7(CARD11):c.220+1G>A	SNV Germline	Chr7:2947574	Conflicting classifications of pathogenicity	Condition: not provided Immunodeficiency 11b with atopic dermatitis Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Conflicting Classifications	CA366647661	rs_1554276623	3 SubmittersRCV000579340 RCV001543392 RCV003767257
NM_032415.7(CARD11):c.3019+9C>T	SNV Germline	Chr7:2913278	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided not specified CARD11-related disorder	Criteria Provided Conflicting Classifications	CA4131901	rs_200741645	4 SubmittersRCV000651164 RCV001508567 RCV001816631 RCV003928116
NM_032415.7(CARD11):c.3303C>T (p.Arg1101=)	SNV Germline	Chr7:2906800	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease BENTA disease Condition: not provided	Criteria Provided Conflicting Classifications	CA4131754	rs_764369378	3 SubmittersRCV000651144 RCV001336764 RCV001811424
NM_032415.7(CARD11):c.140G>A (p.Arg47His)	SNV Germline	Chr7:2947655	Pathogenic/Likely pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4132883	rs_765680532	2 SubmittersRCV000651145 RCV004719916
NM_032415.7(CARD11):c.2509C>T (p.Arg837Ter)	SNV Germline	Chr7:2919373	Pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter	CA366642401	rs_1554271741	1 SubmittersRCV000651149
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln)	SNV Germline	Chr7:2915341	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Immunodeficiency 11b with atopic dermatitis Severe combined immunodeficiency due to CARD11 deficiency BENTA disease CARD11-related disorder	Criteria Provided Conflicting Classifications		rs_368119340	3 SubmittersRCV000764710 RCV000693254 RCV003424287
NM_032415.7(CARD11):c.2449G>A (p.Ala817Thr)	SNV Germline	Chr7:2919433	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11b with atopic dermatitis Condition: not provided	Criteria Provided Conflicting Classifications		rs_376539147	3 SubmittersRCV000704820 RCV001784345 RCV004569383
NM_032415.7(CARD11):c.1373T>G (p.Ile458Ser)	SNV Germline	Chr7:2934598	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Conflicting Classifications		rs_145049015	2 SubmittersRCV000788328 RCV001369822
NM_032415.7(CARD11):c.2921G>A (p.Arg974His)	SNV Germline	Chr7:2913385	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARD11 deficiency BENTA disease not specified	Criteria Provided Conflicting Classifications		rs_750407488	5 SubmittersRCV000788538 RCV000853277 RCV001408682 RCV001816837
NM_032415.7(CARD11):c.2608-8C>T	SNV Germline	Chr7:2917393	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Conflicting Classifications		rs_1467901142	2 SubmittersRCV000788535 RCV002535780
NM_032415.7(CARD11):c.2301C>T (p.Asp767=)	SNV Germline	Chr7:2919581	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency BENTA disease CARD11-related disorder	Criteria Provided Conflicting Classifications		rs_144358235	3 SubmittersRCV000967631 RCV001088007 RCV003936048
NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)	SNV Germline	Chr7:2938822	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications		rs_771790639	2 SubmittersRCV000987814 RCV001869352
NM_032415.7(CARD11):c.3410A>T (p.Asp1137Val)	SNV Germline	Chr7:2906693	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Conflicting Classifications		rs_151255440	2 SubmittersRCV001064047 RCV001332677
NM_032415.7(CARD11):c.3175G>A (p.Gly1059Ser)	SNV Germline	Chr7:2910135	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_376446854	3 SubmittersRCV001045216 RCV003432997
NM_032415.7(CARD11):c.1658C>T (p.Pro553Leu)	SNV Germline	Chr7:2928694	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency CARD11-related disorder	Criteria Provided Conflicting Classifications		rs_138608490	2 SubmittersRCV001040163 RCV003413829
NM_032415.7(CARD11):c.2703+4A>G	SNV Germline	Chr7:2917286	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications		rs_201256077	2 SubmittersRCV001055377 RCV004726839
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)	SNV Germline	Chr7:2913386	Conflicting classifications of pathogenicity	Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency BENTA disease CARD11-related disorder Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11b with atopic dermatitis BENTA disease	Criteria Provided Conflicting Classifications		rs_201847585	4 SubmittersRCV001091305 RCV001225546 RCV003433012 RCV002505671
NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)	SNV Germline	Chr7:2912186	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_751861897	2 SubmittersRCV001219248 RCV004032354
NM_032415.7(CARD11):c.715A>G (p.Met239Val)	SNV Germline	Chr7:2939898	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_541337893	2 SubmittersRCV001214742 RCV003163645
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)	SNV Germline	Chr7:2906721	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11b with atopic dermatitis BENTA disease	Criteria Provided Conflicting Classifications		rs_372251654	2 SubmittersRCV001204235 RCV002480663
NM_032415.7(CARD11):c.2542C>T (p.Arg848Cys)	SNV Germline	Chr7:2918556	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_753952757	4 SubmittersRCV001207179 RCV001532095
NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln)	SNV Germline	Chr7:2919606	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_148354898	3 SubmittersRCV001234990 RCV003145452 RCV003155376
NM_032415.7(CARD11):c.583G>C (p.Val195Leu)	SNV Germline	Chr7:2944313	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease BENTA disease not specified	Criteria Provided Conflicting Classifications		rs_747351557	3 SubmittersRCV001230826 RCV001332678 RCV001819930
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys)	SNV Germline	Chr7:2913407	Conflicting classifications of pathogenicity	BENTA disease BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Immunodeficiency 11b with atopic dermatitis BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications		rs_149857605	3 SubmittersRCV001267744 RCV001350131 RCV002485987
NM_032415.7(CARD11):c.2917C>T (p.Arg973Cys)	SNV Germline	Chr7:2913389	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications		rs_754645078	3 SubmittersRCV001307995 RCV003238344 RCV001760368
NM_032415.7(CARD11):c.2597G>A (p.Arg866Gln)	SNV Germline	Chr7:2918501	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency not specified	Criteria Provided Conflicting Classifications		rs_150990488	2 SubmittersRCV001320234 RCV001820010
NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)	SNV Germline	Chr7:2922664	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Immunodeficiency 11b with atopic dermatitis	Criteria Provided Conflicting Classifications		rs_769577430	2 SubmittersRCV001324104 RCV002493691
NM_032415.7(CARD11):c.752T>C (p.Leu251Pro)	SNV Germline	Chr7:2939861	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications		rs_1780193930	2 SubmittersRCV001316845 RCV002285024
NM_032415.7(CARD11):c.2059G>A (p.Ala687Thr)	SNV Germline	Chr7:2923215	Conflicting classifications of pathogenicity	BENTA disease BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Conflicting Classifications		rs_562372731	2 SubmittersRCV001332676 RCV001871837
NM_032415.7(CARD11):c.223C>T (p.Arg75Trp)	SNV Germline	Chr7:2945954	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Immunodeficiency 11b with atopic dermatitis	Criteria Provided Conflicting Classifications		rs_2115090664	2 SubmittersRCV001373481 RCV002285025
NM_032415.7(CARD11):c.2437G>T (p.Glu813Ter)	SNV Germline	Chr7:2919445	Pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter		rs_542412710	1 SubmittersRCV001383097
NM_032415.7(CARD11):c.2062C>T (p.Arg688Ter)	SNV Germline	Chr7:2923212	Pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter		rs_2115044716	1 SubmittersRCV001381722
NM_032415.7(CARD11):c.793C>T (p.Gln265Ter)	SNV Germline	Chr7:2939820	Pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter		rs_2115075086	1 SubmittersRCV001382589
NM_032415.7(CARD11):c.676C>T (p.Gln226Ter)	SNV Germline	Chr7:2944220	Pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter		rs_1404170214	1 SubmittersRCV001380670
NM_032415.7(CARD11):c.1342-4C>T	SNV Germline	Chr7:2934633	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1413809242	2 SubmittersRCV001395026 RCV003426068
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp)	SNV Germline	Chr7:2944519	Likely pathogenic	BENTA disease BENTA disease Immunodeficiency 11b with atopic dermatitis Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter		rs_1423056320	2 SubmittersRCV001619931 RCV003224811
NM_032415.7(CARD11):c.88C>G (p.Arg30Gly)	SNV Germline	Chr7:2947707	Likely pathogenic	BENTA disease	No Assertion Criteria Provided		rs_145474800	1 SubmittersRCV001542760
NM_032415.7(CARD11):c.358+1G>A	SNV Germline	Chr7:2945818	Conflicting classifications of pathogenicity	Immunodeficiency 11b with atopic dermatitis BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2115090359	3 SubmittersRCV001543393 RCV003771666 RCV004611847
NM_032415.7(CARD11):c.3112G>A (p.Ala1038Thr)	SNV Germline	Chr7:2912204	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199916182	2 SubmittersRCV001924673 RCV004041304
NM_032415.7(CARD11):c.1606C>G (p.Pro536Ala)	SNV Germline	Chr7:2930039	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_770294938	2 SubmittersRCV001966812 RCV004603121
NM_032415.7(CARD11):c.864+1G>A	SNV Germline	Chr7:2939748	Likely pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter		rs_1780191273	1 SubmittersRCV002009770
NM_032415.7(CARD11):c.1528G>A (p.Ala510Thr)	SNV Germline	Chr7:2932577	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_747077612	2 SubmittersRCV001971777 RCV003146439
NM_032415.7(CARD11):c.1940+1G>T	SNV Germline	Chr7:2924232	Likely pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter		rs_2115046344	1 SubmittersRCV002046236
NM_032415.7(CARD11):c.2537T>C (p.Leu846Pro)	SNV Germline	Chr7:2918561	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201141941	2 SubmittersRCV001871107 RCV004040668
NM_032415.7(CARD11):c.1994C>T (p.Ser665Leu)	SNV Germline	Chr7:2923280	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_147823569	3 SubmittersRCV001886274 RCV003146301
NM_032415.7(CARD11):c.215G>A (p.Arg72Gln)	SNV Germline	Chr7:2947580	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_2115093887	2 SubmittersRCV001983408 RCV003236919
NM_032415.7(CARD11):c.1979G>A (p.Arg660Gln)	SNV Germline	Chr7:2923295	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV003087885 RCV004809897 RCV004071945
NM_032415.7(CARD11):c.1450C>T (p.Pro484Ser)	SNV Germline	Chr7:2934521	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003079543 RCV004783008
NM_032415.7(CARD11):c.2009C>T (p.Thr670Met)	SNV Germline	Chr7:2923265	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency CARD11-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002800997 RCV003409931
NM_032415.7(CARD11):c.1341+15G>A	SNV Germline	Chr7:2937022	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002857455 RCV003111600
NM_032415.7(CARD11):c.1600G>A (p.Ala534Thr)	SNV Germline	Chr7:2930045	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002922417 RCV004067002
NM_032415.7(CARD11):c.3418G>A (p.Gly1140Ser)	SNV Germline	Chr7:2906685	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease CARD11-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002928238 RCV003395539
NM_032415.7(CARD11):c.1328A>G (p.Asn443Ser)	SNV Germline	Chr7:2937050	Conflicting classifications of pathogenicity	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003051951 RCV004963354
NM_032415.7(CARD11):c.2231G>A (p.Ser744Asn)	SNV Germline	Chr7:2922672	Conflicting classifications of pathogenicity	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003787728 RCV004374386
NM_032415.7(CARD11):c.2671C>T (p.Arg891Ter)	SNV Germline	Chr7:2917322	Pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter			1 SubmittersRCV003782356
NM_032415.7(CARD11):c.1941-1G>T	SNV Germline	Chr7:2923334	Likely pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter			1 SubmittersRCV003787452
NM_032415.7(CARD11):c.7+1G>C	SNV Germline	Chr7:2958499	Likely pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003791419
NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)	SNV Germline	Chr7:2924280	Pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003795045
NM_032415.7(CARD11):c.864+1G>C	SNV Germline	Chr7:2939748	Likely pathogenic	Severe combined immunodeficiency due to CARD11 deficiency BENTA disease	Criteria Provided Single Submitter			1 SubmittersRCV003808768
NM_032415.7(CARD11):c.359-1G>A	SNV Germline	Chr7:2944538	Likely pathogenic	BENTA disease Severe combined immunodeficiency due to CARD11 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003807288

NM_032415.7(CARD11):c.401A>G (p.Glu134Gly)

SNV
Germline

Chr7:2944495

Pathogenic

BENTA disease

No Assertion Criteria Provided

CA143684

rs_387907351

1 SubmittersRCV000041968

NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)

SNV
Germline

Chr7:2944529

Pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Splenomegaly
Osteopenia
Asthma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA143685

rs_387907352

5 SubmittersRCV000041969 RCV001057931 RCV002243689 RCV002512055

NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)

SNV
Germline

Chr7:2930050

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Conflicting Classifications

CA157808

rs_201780608

5 SubmittersRCV000120438 RCV000788264 RCV001085809

NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)

SNV
Germline

Chr7:2923155

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Immunodeficiency 11b with atopic dermatitis
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA157818

rs_143049136

5 SubmittersRCV000707585 RCV002492420 RCV004019674 RCV004808581 RCV000120443

NM_032415.7(CARD11):c.3139G>A (p.Ala1047Thr)

SNV
Germline

Chr7:2912177

Conflicting classifications of pathogenicity

not specified
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157838

rs_146334064

4 SubmittersRCV000120453 RCV000804742 RCV001532093

NM_032415.7(CARD11):c.572A>G (p.Asn191Ser)

SNV
Germline

Chr7:2944324

Conflicting classifications of pathogenicity

not specified
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157842

rs_147264763

4 SubmittersRCV000120455 RCV000704118 RCV001532097

NM_032415.7(CARD11):c.368G>A (p.Gly123Asp)

SNV
Germline

Chr7:2944528

Pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

CA185998

rs_571517554

2 SubmittersRCV000162028 RCV001850281

NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr)

SNV
Germline

Chr7:2947649

Pathogenic

BENTA disease
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

CA203896

rs_794729673

2 SubmittersRCV000185616 RCV001390618

NM_032415.7(CARD11):c.2900G>A (p.Arg967His)

SNV
Germline

Chr7:2913406

Conflicting classifications of pathogenicity

Condition: not provided
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

CA4131936

rs_141751925

2 SubmittersRCV000441026 RCV001368304

NM_032415.7(CARD11):c.2923C>T (p.Arg975Trp)

SNV
Germline

Chr7:2913383

Conflicting classifications of pathogenicity

Condition: not provided
Immunodeficiency 11b with atopic dermatitis
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Conflicting Classifications

CA16618450

rs_1064795307

3 SubmittersRCV000484392 RCV000499590 RCV003766695

NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)

SNV
Germline

Chr7:2945953

Conflicting classifications of pathogenicity

Condition: not provided
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

CA16618451

rs_1064795280

4 SubmittersRCV000726904 RCV002526603

NM_032415.7(CARD11):c.3145-3C>T

SNV
Germline

Chr7:2910168

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
not specified

Criteria Provided
Conflicting Classifications

CA4131809

rs_200456391

7 SubmittersRCV000551661 RCV000788537 RCV000853282 RCV001262448 RCV001821609

NM_032415.7(CARD11):c.388T>A (p.Phe130Ile)

SNV
Germline

Chr7:2944508

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366647263

rs_1554276147

2 SubmittersRCV000540112 RCV003456414

NM_032415.7(CARD11):c.88C>T (p.Arg30Trp)

SNV
Germline

Chr7:2947707

Pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided
Immunodeficiency 11b with atopic dermatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA366647967

rs_145474800

3 SubmittersRCV000528697 RCV000788795 RCV002285361

NM_032415.7(CARD11):c.3063G>C (p.Glu1021Asp)

SNV
Germline

Chr7:2912253

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4131863

rs_375727923

2 SubmittersRCV000534473 RCV001532094

NM_032415.7(CARD11):c.220+1G>A

SNV
Germline

Chr7:2947574

Conflicting classifications of pathogenicity

Condition: not provided
Immunodeficiency 11b with atopic dermatitis
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Conflicting Classifications

CA366647661

rs_1554276623

3 SubmittersRCV000579340 RCV001543392 RCV003767257

NM_032415.7(CARD11):c.3019+9C>T

SNV
Germline

Chr7:2913278

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided
not specified
CARD11-related disorder

Criteria Provided
Conflicting Classifications

CA4131901

rs_200741645

4 SubmittersRCV000651164 RCV001508567 RCV001816631 RCV003928116

NM_032415.7(CARD11):c.3303C>T (p.Arg1101=)

SNV
Germline

Chr7:2906800

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
BENTA disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4131754

rs_764369378

3 SubmittersRCV000651144 RCV001336764 RCV001811424

NM_032415.7(CARD11):c.140G>A (p.Arg47His)

SNV
Germline

Chr7:2947655

Pathogenic/Likely pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4132883

rs_765680532

2 SubmittersRCV000651145 RCV004719916

NM_032415.7(CARD11):c.2509C>T (p.Arg837Ter)

SNV
Germline

Chr7:2919373

Pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

CA366642401

rs_1554271741

1 SubmittersRCV000651149

NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln)

SNV
Germline

Chr7:2915341

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Immunodeficiency 11b with atopic dermatitis
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
CARD11-related disorder

Criteria Provided
Conflicting Classifications

rs_368119340

3 SubmittersRCV000764710 RCV000693254 RCV003424287

NM_032415.7(CARD11):c.2449G>A (p.Ala817Thr)

SNV
Germline

Chr7:2919433

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Immunodeficiency 11b with atopic dermatitis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376539147

3 SubmittersRCV000704820 RCV001784345 RCV004569383

NM_032415.7(CARD11):c.1373T>G (p.Ile458Ser)

SNV
Germline

Chr7:2934598

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Conflicting Classifications

rs_145049015

2 SubmittersRCV000788328 RCV001369822

NM_032415.7(CARD11):c.2921G>A (p.Arg974His)

SNV
Germline

Chr7:2913385

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
not specified

Criteria Provided
Conflicting Classifications

rs_750407488

5 SubmittersRCV000788538 RCV000853277 RCV001408682 RCV001816837

NM_032415.7(CARD11):c.2608-8C>T

SNV
Germline

Chr7:2917393

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Conflicting Classifications

rs_1467901142

2 SubmittersRCV000788535 RCV002535780

NM_032415.7(CARD11):c.2301C>T (p.Asp767=)

SNV
Germline

Chr7:2919581

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
CARD11-related disorder

Criteria Provided
Conflicting Classifications

rs_144358235

3 SubmittersRCV000967631 RCV001088007 RCV003936048

NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)

SNV
Germline

Chr7:2938822

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

rs_771790639

2 SubmittersRCV000987814 RCV001869352

NM_032415.7(CARD11):c.3410A>T (p.Asp1137Val)

SNV
Germline

Chr7:2906693

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Conflicting Classifications

rs_151255440

2 SubmittersRCV001064047 RCV001332677

NM_032415.7(CARD11):c.3175G>A (p.Gly1059Ser)

SNV
Germline

Chr7:2910135

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376446854

3 SubmittersRCV001045216 RCV003432997

NM_032415.7(CARD11):c.1658C>T (p.Pro553Leu)

SNV
Germline

Chr7:2928694

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
CARD11-related disorder

Criteria Provided
Conflicting Classifications

rs_138608490

2 SubmittersRCV001040163 RCV003413829

NM_032415.7(CARD11):c.2703+4A>G

SNV
Germline

Chr7:2917286

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

rs_201256077

2 SubmittersRCV001055377 RCV004726839

NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)

SNV
Germline

Chr7:2913386

Conflicting classifications of pathogenicity

Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
CARD11-related disorder
Severe combined immunodeficiency due to CARD11 deficiency
Immunodeficiency 11b with atopic dermatitis
BENTA disease

Criteria Provided
Conflicting Classifications

rs_201847585

4 SubmittersRCV001091305 RCV001225546 RCV003433012 RCV002505671

NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)

SNV
Germline

Chr7:2912186

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751861897

2 SubmittersRCV001219248 RCV004032354

NM_032415.7(CARD11):c.715A>G (p.Met239Val)

SNV
Germline

Chr7:2939898

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_541337893

2 SubmittersRCV001214742 RCV003163645

NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)

SNV
Germline

Chr7:2906721

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Immunodeficiency 11b with atopic dermatitis
BENTA disease

Criteria Provided
Conflicting Classifications

rs_372251654

2 SubmittersRCV001204235 RCV002480663

NM_032415.7(CARD11):c.2542C>T (p.Arg848Cys)

SNV
Germline

Chr7:2918556

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753952757

4 SubmittersRCV001207179 RCV001532095

NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln)

SNV
Germline

Chr7:2919606

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_148354898

3 SubmittersRCV001234990 RCV003145452 RCV003155376

NM_032415.7(CARD11):c.583G>C (p.Val195Leu)

SNV
Germline

Chr7:2944313

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
BENTA disease
not specified

Criteria Provided
Conflicting Classifications

rs_747351557

3 SubmittersRCV001230826 RCV001332678 RCV001819930

NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys)

SNV
Germline

Chr7:2913407

Conflicting classifications of pathogenicity

BENTA disease
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Immunodeficiency 11b with atopic dermatitis
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

rs_149857605

3 SubmittersRCV001267744 RCV001350131 RCV002485987

NM_032415.7(CARD11):c.2917C>T (p.Arg973Cys)

SNV
Germline

Chr7:2913389

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

rs_754645078

3 SubmittersRCV001307995 RCV003238344 RCV001760368

NM_032415.7(CARD11):c.2597G>A (p.Arg866Gln)

SNV
Germline

Chr7:2918501

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_150990488

2 SubmittersRCV001320234 RCV001820010

NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)

SNV
Germline

Chr7:2922664

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Immunodeficiency 11b with atopic dermatitis

Criteria Provided
Conflicting Classifications

rs_769577430

2 SubmittersRCV001324104 RCV002493691

NM_032415.7(CARD11):c.752T>C (p.Leu251Pro)

SNV
Germline

Chr7:2939861

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

rs_1780193930

2 SubmittersRCV001316845 RCV002285024

NM_032415.7(CARD11):c.2059G>A (p.Ala687Thr)

SNV
Germline

Chr7:2923215

Conflicting classifications of pathogenicity

BENTA disease
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Conflicting Classifications

rs_562372731

2 SubmittersRCV001332676 RCV001871837

NM_032415.7(CARD11):c.223C>T (p.Arg75Trp)

SNV
Germline

Chr7:2945954

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Immunodeficiency 11b with atopic dermatitis

Criteria Provided
Conflicting Classifications

rs_2115090664

2 SubmittersRCV001373481 RCV002285025

NM_032415.7(CARD11):c.2437G>T (p.Glu813Ter)

SNV
Germline

Chr7:2919445

Pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

rs_542412710

1 SubmittersRCV001383097

NM_032415.7(CARD11):c.2062C>T (p.Arg688Ter)

SNV
Germline

Chr7:2923212

Pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

rs_2115044716

1 SubmittersRCV001381722

NM_032415.7(CARD11):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr7:2939820

Pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

rs_2115075086

1 SubmittersRCV001382589

NM_032415.7(CARD11):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr7:2944220

Pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

rs_1404170214

1 SubmittersRCV001380670

NM_032415.7(CARD11):c.1342-4C>T

SNV
Germline

Chr7:2934633

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1413809242

2 SubmittersRCV001395026 RCV003426068

NM_032415.7(CARD11):c.377G>A (p.Gly126Asp)

SNV
Germline

Chr7:2944519

Likely pathogenic

BENTA disease
BENTA disease
Immunodeficiency 11b with atopic dermatitis
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

rs_1423056320

2 SubmittersRCV001619931 RCV003224811

NM_032415.7(CARD11):c.88C>G (p.Arg30Gly)

SNV
Germline

Chr7:2947707

Likely pathogenic

BENTA disease

No Assertion Criteria Provided

rs_145474800

1 SubmittersRCV001542760

NM_032415.7(CARD11):c.358+1G>A

SNV
Germline

Chr7:2945818

Conflicting classifications of pathogenicity

Immunodeficiency 11b with atopic dermatitis
BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2115090359

3 SubmittersRCV001543393 RCV003771666 RCV004611847

NM_032415.7(CARD11):c.3112G>A (p.Ala1038Thr)

SNV
Germline

Chr7:2912204

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199916182

2 SubmittersRCV001924673 RCV004041304

NM_032415.7(CARD11):c.1606C>G (p.Pro536Ala)

SNV
Germline

Chr7:2930039

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770294938

2 SubmittersRCV001966812 RCV004603121

NM_032415.7(CARD11):c.864+1G>A

SNV
Germline

Chr7:2939748

Likely pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

rs_1780191273

1 SubmittersRCV002009770

NM_032415.7(CARD11):c.1528G>A (p.Ala510Thr)

SNV
Germline

Chr7:2932577

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747077612

2 SubmittersRCV001971777 RCV003146439

NM_032415.7(CARD11):c.1940+1G>T

SNV
Germline

Chr7:2924232

Likely pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

rs_2115046344

1 SubmittersRCV002046236

NM_032415.7(CARD11):c.2537T>C (p.Leu846Pro)

SNV
Germline

Chr7:2918561

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201141941

2 SubmittersRCV001871107 RCV004040668

NM_032415.7(CARD11):c.1994C>T (p.Ser665Leu)

SNV
Germline

Chr7:2923280

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147823569

3 SubmittersRCV001886274 RCV003146301

NM_032415.7(CARD11):c.215G>A (p.Arg72Gln)

SNV
Germline

Chr7:2947580

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2115093887

2 SubmittersRCV001983408 RCV003236919

NM_032415.7(CARD11):c.1979G>A (p.Arg660Gln)

SNV
Germline

Chr7:2923295

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003087885 RCV004809897 RCV004071945

NM_032415.7(CARD11):c.1450C>T (p.Pro484Ser)

SNV
Germline

Chr7:2934521

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003079543 RCV004783008

NM_032415.7(CARD11):c.2009C>T (p.Thr670Met)

SNV
Germline

Chr7:2923265

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
CARD11-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002800997 RCV003409931

NM_032415.7(CARD11):c.1341+15G>A

SNV
Germline

Chr7:2937022

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002857455 RCV003111600

NM_032415.7(CARD11):c.1600G>A (p.Ala534Thr)

SNV
Germline

Chr7:2930045

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002922417 RCV004067002

NM_032415.7(CARD11):c.3418G>A (p.Gly1140Ser)

SNV
Germline

Chr7:2906685

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
CARD11-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002928238 RCV003395539

NM_032415.7(CARD11):c.1328A>G (p.Asn443Ser)

SNV
Germline

Chr7:2937050

Conflicting classifications of pathogenicity

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003051951 RCV004963354

NM_032415.7(CARD11):c.2231G>A (p.Ser744Asn)

SNV
Germline

Chr7:2922672

Conflicting classifications of pathogenicity

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003787728 RCV004374386

NM_032415.7(CARD11):c.2671C>T (p.Arg891Ter)

SNV
Germline

Chr7:2917322

Pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

1 SubmittersRCV003782356

NM_032415.7(CARD11):c.1941-1G>T

SNV
Germline

Chr7:2923334

Likely pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

1 SubmittersRCV003787452

NM_032415.7(CARD11):c.7+1G>C

SNV
Germline

Chr7:2958499

Likely pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003791419

NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)

SNV
Germline

Chr7:2924280

Pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003795045

NM_032415.7(CARD11):c.864+1G>C

SNV
Germline

Chr7:2939748

Likely pathogenic

Severe combined immunodeficiency due to CARD11 deficiency
BENTA disease

Criteria Provided
Single Submitter

1 SubmittersRCV003808768

NM_032415.7(CARD11):c.359-1G>A

SNV
Germline

Chr7:2944538

Likely pathogenic

BENTA disease
Severe combined immunodeficiency due to CARD11 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003807288