Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)	SNV Germline	Chr8:89964428	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA197104	rs_121908973	6 SubmittersRCV000007359 RCV000166946
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	SNV Germline	Chr8:89978293	Conflicting classifications of pathogenicity	Aplastic anemia Leukemia, acute lymphoblastic, susceptibility to Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Condition: not provided Hereditary breast ovarian cancer syndrome Breast carcinoma Carcinoma of colon Hereditary cancer NBN-related disorder Diffuse midline glioma, H3 K27-altered Pediatric high-grade glioma	Criteria Provided Conflicting Classifications	CA160981	rs_61754966	27 SubmittersRCV000007360 RCV000007361 RCV000115797 RCV000121618 RCV000197512 RCV000490266 RCV000589577 RCV001030566 RCV001262350 RCV001358233 RCV003492288 RCV003891430 RCV004776268 RCV004776269
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	SNV Germline	Chr8:89958760	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA254010	rs_121908974	6 SubmittersRCV000007362 RCV003329227 RCV003472997
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	SNV Germline	Chr8:89971232	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Condition: not provided NBN-related disorder	Criteria Provided Conflicting Classifications	CA160990	rs_34767364	25 SubmittersRCV000007363 RCV000115802 RCV000121621 RCV000487932 RCV003891431
NM_002485.5(NBN):c.*401C>G	SNV Germline	Chr8:89935181	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA230725	rs_104895030	3 SubmittersRCV000114873 RCV000316124
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	SNV Germline	Chr8:89955418	Conflicting classifications of pathogenicity	Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Familial cancer of breast Malignant tumor of breast Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA230729	rs_104895032	24 SubmittersRCV000515275 RCV000757930 RCV001358304 RCV000114875 RCV000115780 RCV000123203 RCV000212745
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	SNV Germline	Chr8:89971247	Conflicting classifications of pathogenicity	Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast NBN-related disorder Condition: not provided Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA160993	rs_61754796	23 SubmittersRCV000515300 RCV001358247 RCV003891593 RCV000114880 RCV000115801 RCV000121622 RCV000168062
NM_002485.5(NBN):c.1035C>T (p.Gly345=)	SNV Germline	Chr8:89958814	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified NBN-related disorder	Criteria Provided Conflicting Classifications	CA287892	rs_146605798	12 SubmittersRCV000115775 RCV000587475 RCV001081028 RCV001818276 RCV003925115
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	SNV Germline	Chr8:89958813	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency Malignant tumor of prostate Aplastic anemia Malignant tumor of breast NBN-related disorder	Criteria Provided Conflicting Classifications	CA287895	rs_200297914	17 SubmittersRCV000115776 RCV000212741 RCV000589164 RCV001082179 RCV001255161 RCV001293998 RCV001355371 RCV003945047
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)	SNV Germline	Chr8:89958758	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA287898	rs_370229163	6 SubmittersRCV000115777 RCV000217684 RCV000700024 RCV001818277
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)	SNV Germline	Chr8:89955442	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA287901	rs_529340553	7 SubmittersRCV000222002 RCV000589729 RCV001087448
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)	SNV Germline	Chr8:89955363	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Malignant tumor of breast Condition: not provided NBN-related disorder	Criteria Provided Conflicting Classifications	CA200704	rs_28538230	12 SubmittersRCV000115781 RCV000173760 RCV001082062 RCV001292773 RCV001355697 RCV001719859 RCV003935104
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)	SNV Germline	Chr8:89953378	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA287907	rs_587780090	5 SubmittersRCV000115783 RCV000216588 RCV000685440
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	SNV Germline	Chr8:89953369	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA160969	rs_142334798	18 SubmittersRCV000115784 RCV000121614 RCV000123208 RCV000587365 RCV001354070
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	SNV Germline	Chr8:89953312	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA287910	rs_146989944	10 SubmittersRCV000115785 RCV000212750 RCV000656929 RCV000988083 RCV003891614
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)	SNV Germline	Chr8:89946211	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia Aplastic anemia not specified NBN-related disorder	Criteria Provided Conflicting Classifications	CA287913	rs_587780091	13 SubmittersRCV000115786 RCV000212753 RCV000230585 RCV000515337 RCV001328956 RCV001778709 RCV003915124
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)	SNV Germline	Chr8:89981441	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA287928	rs_587780095	7 SubmittersRCV000115791 RCV000214236 RCV000231493
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	SNV Germline	Chr8:89981412	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA160975	rs_61753720	23 SubmittersRCV000115792 RCV000121616 RCV000123216 RCV000588621
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)	SNV Germline	Chr8:89980789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia Condition: not provided Malignant tumor of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA160978	rs_769414	14 SubmittersRCV000115794 RCV000121617 RCV000168260 RCV000515292 RCV000589414 RCV001355243 RCV003492491
NM_002485.5(NBN):c.456G>A (p.Met152Ile)	SNV Germline	Chr8:89980758	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia not specified Malignant tumor of breast Aplastic anemia	Criteria Provided Conflicting Classifications	CA287934	rs_201816949	18 SubmittersRCV000115795 RCV000197783 RCV000509203 RCV000515395 RCV000781635 RCV001356300 RCV003467061
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)	SNV Germline	Chr8:89978299	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia Hereditary breast ovarian cancer syndrome not specified NBN-related disorder	Criteria Provided Conflicting Classifications	CA287937	rs_182756889	13 SubmittersRCV000115796 RCV000123218 RCV000587269 RCV000764786 RCV001030567 RCV001549273 RCV003389690
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)	SNV Germline	Chr8:89971280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Conflicting Classifications	CA287940	rs_587780097	10 SubmittersRCV000115798 RCV000235189 RCV000461206 RCV000515203
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	SNV Germline	Chr8:89970502	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided NBN-related disorder	Criteria Provided Conflicting Classifications	CA160999	rs_61754967	13 SubmittersRCV000115805 RCV000121624 RCV000168183 RCV000656925 RCV003952554
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)	SNV Germline	Chr8:89970472	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Condition: not provided Hereditary cancer NBN-related disorder	Criteria Provided Conflicting Classifications	CA287950	rs_147626427	10 SubmittersRCV000115806 RCV000199794 RCV000212737 RCV000656926 RCV003492492 RCV004745190
NM_002485.5(NBN):c.321-2A>G	SNV Germline	Chr8:89980895	Likely pathogenic	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA156443	rs_587777931	3 SubmittersRCV000119854 RCV002514610 RCV003162555
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)	SNV Germline	Chr8:89953684	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary breast ovarian cancer syndrome NBN-related disorder Aplastic anemia	Criteria Provided Conflicting Classifications	CA160966	rs_148205441	13 SubmittersRCV000121613 RCV000129788 RCV000167890 RCV000588734 RCV002225383 RCV003389699 RCV003474728
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	SNV Germline	Chr8:89982789	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA332807	rs_587780773	11 SubmittersRCV000123202 RCV000221417 RCV000484131 RCV001264517 RCV003467093
NM_002485.5(NBN):c.38-10T>A	SNV Germline	Chr8:89982865	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA292412	rs_556807466	10 SubmittersRCV000127085 RCV000200594 RCV000733762 RCV002225409
NM_002485.5(NBN):c.1124+6G>T	SNV Germline	Chr8:89958719	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA292413	rs_375862750	12 SubmittersRCV000127086 RCV000199990 RCV000581770 RCV000587851 RCV001354937
NM_002485.5(NBN):c.1914+10G>A	SNV Germline	Chr8:89947814	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA205304	rs_577706448	13 SubmittersRCV000192466 RCV000232925 RCV000581136 RCV000679456 RCV001357262
NM_002485.5(NBN):c.481-18A>G	SNV Germline	Chr8:89978341	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA292414	rs_587781092	3 SubmittersRCV000127092 RCV002055696 RCV004017414
NM_002485.5(NBN):c.1125-3C>T	SNV Germline	Chr8:89955558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA163760	rs_587781326	5 SubmittersRCV000129069 RCV000361912 RCV001719900
NM_002485.5(NBN):c.172-3C>T	SNV Germline	Chr8:89981526	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA164959	rs_587781620	5 SubmittersRCV000129710 RCV000330677 RCV000832940
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	SNV Germline	Chr8:89947826	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA164965	rs_199657566	14 SubmittersRCV000229344 RCV000129714 RCV000214531 RCV001193652 RCV001354210
NM_002485.5(NBN):c.73G>A (p.Val25Ile)	SNV Germline	Chr8:89982820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA294139	rs_587781748	8 SubmittersRCV000129954 RCV000212726 RCV000232974 RCV000656923
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)	SNV Germline	Chr8:89953360	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA165950	rs_587781881	9 SubmittersRCV000130210 RCV000199051 RCV000499428 RCV000589088 RCV003474761
NM_002485.5(NBN):c.1124+5A>T	SNV Germline	Chr8:89958720	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA166777	rs_587782108	5 SubmittersRCV000130624 RCV000608438 RCV000672993
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)	SNV Germline	Chr8:89953615	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA166874	rs_587782130	5 SubmittersRCV000130673 RCV000480769 RCV000529643 RCV003467153
NM_002485.5(NBN):c.-2C>A	SNV Germline	Chr8:89984563	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA167158	rs_202104448	7 SubmittersRCV000130810 RCV000422154 RCV001284195 RCV001800437
NM_002485.5(NBN):c.171+4T>C	SNV Germline	Chr8:89982718	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA167713	rs_587782290	10 SubmittersRCV000131170 RCV000205676 RCV000590607
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	SNV Germline	Chr8:89982766	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Condition: not provided Gastric cancer	Criteria Provided Conflicting Classifications	CA167743	rs_200287925	13 SubmittersRCV000131193 RCV003467167 RCV000409406 RCV000489509 RCV003162586
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)	SNV Germline	Chr8:89981417	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA206703	rs_12721593	12 SubmittersRCV000131226 RCV000193311 RCV000168344 RCV001354986 RCV000586867
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)	SNV Germline	Chr8:89953498	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA167864	rs_587782330	7 SubmittersRCV000131247 RCV000542468 RCV001357760 RCV001778752
NM_002485.5(NBN):c.584+3A>G	SNV Germline	Chr8:89978217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA168167	rs_587782407	5 SubmittersRCV000131444 RCV000636786 RCV003225031
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	SNV Germline	Chr8:89955326	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary cancer Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified NBN-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA294382	rs_141137543	16 SubmittersRCV000131458 RCV003492622 RCV000735122 RCV000199946 RCV000212747 RCV003905237 RCV002225444
NM_002485.5(NBN):c.949A>G (p.Met317Val)	SNV Germline	Chr8:89964455	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA168521	rs_587782502	5 SubmittersRCV000131642 RCV000477065 RCV000485286
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	SNV Germline	Chr8:89947835	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA168703	rs_587782545	12 SubmittersRCV000131755 RCV000219708 RCV000227700 RCV000763606 RCV003467185
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	SNV Germline	Chr8:89943297	Pathogenic/Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA299657	rs_730881864	15 SubmittersRCV000160804 RCV000204431 RCV000215628 RCV000515171 RCV003467267
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	SNV Germline	Chr8:89943320	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Aplastic anemia NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA299633	rs_730881857	10 SubmittersRCV000160795 RCV000212754 RCV000409031 RCV001535781 RCV003467263 RCV003407597
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)	SNV Germline	Chr8:89946181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia not specified	Criteria Provided Conflicting Classifications	CA299630	rs_730881856	9 SubmittersRCV000160794 RCV000205938 RCV000235191 RCV001788054 RCV003317109
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)	SNV Germline	Chr8:89953388	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA299621	rs_730881853	4 SubmittersRCV000160791 RCV000771478 RCV001800471
NM_002485.5(NBN):c.1397+2T>A	SNV Germline	Chr8:89955281	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA299614	rs_730881850	3 SubmittersRCV000160788 RCV000459098 RCV003467262
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)	SNV Germline	Chr8:89955337	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified Aplastic anemia NBN-related disorder	Criteria Provided Conflicting Classifications	CA239214	rs_146403088	12 SubmittersRCV000160787 RCV000200818 RCV000656928 RCV001264572 RCV003474834 RCV004745222
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)	SNV Germline	Chr8:89955425	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA299611	rs_730881849	4 SubmittersRCV000160786 RCV000212744 RCV001304232
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	SNV Germline	Chr8:89958760	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA248080	rs_121908974	12 SubmittersRCV000160770 RCV000212742 RCV000724700 RCV001079308
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)	SNV Germline	Chr8:89971279	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA299593	rs_730881844	13 SubmittersRCV000160780 RCV000205060 RCV000726896 RCV002229765 RCV003474833
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)	SNV Germline	Chr8:89980746	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA299636	rs_730881858	9 SubmittersRCV000160796 RCV000222254 RCV000456204 RCV000781643
NM_002485.5(NBN):c.289A>G (p.Ile97Val)	SNV Germline	Chr8:89981406	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA299627	rs_730881855	4 SubmittersRCV000160793 RCV000636730 RCV002433715
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)	SNV Germline	Chr8:89984546	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia not specified	Criteria Provided Conflicting Classifications	CA299642	rs_730881859	8 SubmittersRCV000160798 RCV000197183 RCV000212724 RCV003467264 RCV004700496
NM_002485.5(NBN):c.-26G>A	SNV Germline	Chr8:89984587	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA299592	rs_201392451	5 SubmittersRCV000160779 RCV000352846 RCV003482133
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)	SNV Germline	Chr8:89981409	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA333815	rs_730882133	4 SubmittersRCV000161942 RCV000574837 RCV002478492
NM_002485.5(NBN):c.2234+2T>G	SNV Germline	Chr8:89937024	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA190813	rs_142301194	6 SubmittersRCV000164379 RCV000508046 RCV000636785 RCV003474858
NM_002485.5(NBN):c.2071-1G>C	SNV Germline	Chr8:89943367	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA191166	rs_786201965	8 SubmittersRCV000164521 RCV000409665 RCV000483747 RCV003474861
NM_002485.5(NBN):c.2070+2T>G	SNV Germline	Chr8:89946138	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA195879	rs_786203223	3 SubmittersRCV000166440 RCV000759171 RCV001378392
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)	SNV Germline	Chr8:89946154	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA198303	rs_786203920	2 SubmittersRCV000167435 RCV002516520
NM_002485.5(NBN):c.1989G>A (p.Val663=)	SNV Germline	Chr8:89946221	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA186793	rs_757753217	5 SubmittersRCV000162717 RCV000931948 RCV001503777 RCV003937483
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)	SNV Germline	Chr8:89953273	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA195896	rs_774324419	5 SubmittersRCV000166446 RCV000586042 RCV000636773
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)	SNV Germline	Chr8:89953280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA191232	rs_192236678	11 SubmittersRCV000164543 RCV000424535 RCV000589243 RCV001030565 RCV001081367 RCV001357000
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	SNV Germline	Chr8:89953366	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA190280	rs_786201745	5 SubmittersRCV000164194 RCV000456402 RCV003462127
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)	SNV Germline	Chr8:89953624	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Aplastic anemia	Criteria Provided Conflicting Classifications	CA190135	rs_143948240	8 SubmittersRCV000164141 RCV000197233 RCV001354892 RCV003467286
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)	SNV Germline	Chr8:89955398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA192382	rs_786202302	9 SubmittersRCV000165044 RCV000476294 RCV000588529 RCV001788056
NM_002485.5(NBN):c.1248G>T (p.Met416Ile)	SNV Germline	Chr8:89955432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA191930	rs_756572268	5 SubmittersRCV000164855 RCV000534913 RCV001582649 RCV003468723
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala)	SNV Germline	Chr8:89955476	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA197574	rs_201373377	3 SubmittersRCV000167134 RCV000686355
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)	SNV Germline	Chr8:89970474	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Aplastic anemia Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA192297	rs_372159380	10 SubmittersRCV000165014 RCV003462161 RCV000214639 RCV000473725 RCV001264536
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)	SNV Germline	Chr8:89980799	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA193554	rs_543852763	7 SubmittersRCV000165497 RCV000168457 RCV001706081 RCV002225484
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	SNV Germline	Chr8:89981429	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Malignant tumor of breast NBN-related disorder	Criteria Provided Conflicting Classifications	CA189935	rs_747315554	10 SubmittersRCV000164059 RCV000473711 RCV000483231 RCV001354099 RCV004745239
NM_002485.5(NBN):c.235A>G (p.Asn79Asp)	SNV Germline	Chr8:89981460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Ovarian cancer	Criteria Provided Conflicting Classifications	CA194070	rs_786202749	4 SubmittersRCV000165721 RCV000812346 RCV003153447
NM_002485.5(NBN):c.120G>T (p.Ser40=)	SNV Germline	Chr8:89982773	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA189008	rs_774989816	9 SubmittersRCV000163710 RCV000733019 RCV000988090 RCV003975231
NM_002485.5(NBN):c.37+1G>A	SNV Germline	Chr8:89984524	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA194448	rs_574673404	12 SubmittersRCV000165888 RCV000470841 RCV000708614 RCV001270989 RCV001310161 RCV003468760
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)	SNV Germline	Chr8:89943272	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA334459	rs_786204181	1 SubmittersRCV000168229
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr8:89958819	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA274767	rs_767215758	11 SubmittersRCV000170448 RCV000220210 RCV000446931 RCV000763607 RCV003474919
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)	SNV Germline	Chr8:89970418	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA334800	rs_786205135	8 SubmittersRCV000170447 RCV000772328 RCV003468849 RCV003398875
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)	SNV Germline	Chr8:89946231	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome not specified NBN-related disorder Aplastic anemia	Criteria Provided Conflicting Classifications	CA335799	rs_201781110	10 SubmittersRCV000195616 RCV000486313 RCV000566063 RCV001731429 RCV003407708 RCV004567439
NM_002485.5(NBN):c.854G>C (p.Cys285Ser)	SNV Germline	Chr8:89970406	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA336228	rs_863224715	3 SubmittersRCV000196198 RCV001017981
NM_002485.5(NBN):c.38-7A>G	SNV Germline	Chr8:89982862	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA337102	rs_863224392	4 SubmittersRCV000197294 RCV001705149
NM_002485.5(NBN):c.37+10G>C	SNV Germline	Chr8:89984515	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA337883	rs_369408590	10 SubmittersRCV000198382 RCV000432416 RCV000580931 RCV000859143 RCV001356816
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	SNV Germline	Chr8:89953342	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA350525	rs_864622143	7 SubmittersRCV000206506 RCV000217030 RCV001753608 RCV002478725 RCV003468931
NM_002485.5(NBN):c.897-2A>T	SNV Germline	Chr8:89964509	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency NBN-related disorder Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA348947	rs_864622090	9 SubmittersRCV000204744 RCV000222760 RCV001567181 RCV002057048 RCV003401102 RCV003474977
NM_002485.5(NBN):c.340G>T (p.Val114Phe)	SNV Germline	Chr8:89980874	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA350859	rs_771034958	9 SubmittersRCV000206877 RCV000220601 RCV000486552 RCV000764790 RCV000767209 RCV003474978
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)	SNV Germline	Chr8:89981429	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA348406	rs_747315554	8 SubmittersRCV000204158 RCV000215544 RCV002466468
NM_002485.5(NBN):c.2071-1G>A	SNV Germline	Chr8:89943367	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA10577363	rs_786201965	6 SubmittersRCV000217514 RCV000222103 RCV000543979 RCV004567540
NM_002485.5(NBN):c.1398-10T>A	SNV Germline	Chr8:89953701	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA4802732	rs_539960851	7 SubmittersRCV000214666 RCV000463346 RCV001355059 RCV002225524 RCV004701297
NM_002485.5(NBN):c.666C>T (p.Phe222=)	SNV Germline	Chr8:89971209	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA10577368	rs_876661098	6 SubmittersRCV000220946 RCV001183517 RCV001273693 RCV002509326
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)	SNV Germline	Chr8:89984556	Pathogenic/Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA10577371	rs_876661130	2 SubmittersRCV000220864 RCV001854740
NM_002485.5(NBN):c.2184+1G>T	SNV Germline	Chr8:89943252	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA10578743	rs_756363734	9 SubmittersRCV000222999 RCV000411514 RCV000478822 RCV003469077
NM_002485.5(NBN):c.2073C>T (p.Val691=)	SNV Germline	Chr8:89943364	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA10578745	rs_876658178	3 SubmittersRCV000223586 RCV000636790 RCV003330586
NM_002485.5(NBN):c.2070+4G>A	SNV Germline	Chr8:89946136	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified NBN-related disorder	Criteria Provided Conflicting Classifications	CA10578746	rs_876660950	9 SubmittersRCV000216823 RCV000467512 RCV000842243 RCV002265696 RCV003929919
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)	SNV Germline	Chr8:89953293	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian cancer Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802684	rs_775848374	5 SubmittersRCV000215909 RCV003153514 RCV000534730
NM_002485.5(NBN):c.1672A>G (p.Ile558Val)	SNV Germline	Chr8:89953417	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578755	rs_876659451	4 SubmittersRCV000216080 RCV000465308
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)	SNV Germline	Chr8:89953430	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10578756	rs_876659960	7 SubmittersRCV000213628 RCV000530341 RCV001658036 RCV001800566
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)	SNV Germline	Chr8:89953467	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA10578757	rs_876658501	6 SubmittersRCV000216784 RCV000460642 RCV003468996
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)	SNV Germline	Chr8:89953635	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4802717	rs_200891292	7 SubmittersRCV000218203 RCV000473153 RCV001284189 RCV001800560
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)	SNV Germline	Chr8:89953672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802721	rs_755805461	6 SubmittersRCV000213681 RCV000463881 RCV000484796 RCV003475035
NM_002485.5(NBN):c.1397+3C>G	SNV Germline	Chr8:89955280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578766	rs_876660481	5 SubmittersRCV000216247 RCV000636797
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)	SNV Germline	Chr8:89955365	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA4802766	rs_752837508	5 SubmittersRCV000214707 RCV000229100 RCV004586635
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)	SNV Germline	Chr8:89955482	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802781	rs_551602980	3 SubmittersRCV000217029 RCV000988085 RCV002478803
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)	SNV Germline	Chr8:89955520	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802785	rs_747632184	5 SubmittersRCV000215651 RCV000699656 RCV003477740
NM_002485.5(NBN):c.1152C>G (p.Ile384Met)	SNV Germline	Chr8:89955528	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578769	rs_551802153	4 SubmittersRCV000218105 RCV001067296
NM_002485.5(NBN):c.995-2A>G	SNV Germline	Chr8:89958856	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10578779	rs_876659521	7 SubmittersRCV000223218 RCV000231563 RCV000481197 RCV003475021 RCV003407753
NM_002485.5(NBN):c.977A>G (p.Gln326Arg)	SNV Germline	Chr8:89964427	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578781	rs_876659586	2 SubmittersRCV000217834 RCV001853581
NM_002485.5(NBN):c.703-3T>C	SNV Germline	Chr8:89970560	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578794	rs_876659566	4 SubmittersRCV000216120 RCV000615655 RCV000809078
NM_002485.5(NBN):c.394A>G (p.Ile132Val)	SNV Germline	Chr8:89980820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802987	rs_756946899	3 SubmittersRCV000223570 RCV000636732
NM_002485.5(NBN):c.109A>G (p.Asn37Asp)	SNV Germline	Chr8:89982784	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578814	rs_876658411	3 SubmittersRCV000217641 RCV000469351
NM_002485.5(NBN):c.105T>G (p.Ile35Met)	SNV Germline	Chr8:89982788	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA4803056	rs_78870221	6 SubmittersRCV000216738 RCV000533679 RCV001570359 RCV003475034
NM_002485.5(NBN):c.38-5C>T	SNV Germline	Chr8:89982860	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4803067	rs_775244752	5 SubmittersRCV000221618 RCV000439470 RCV001496026
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)	SNV Germline	Chr8:89946195	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4802630	rs_6413508	5 SubmittersRCV000234509 RCV000568348 RCV000788461
NM_002485.5(NBN):c.1738G>A (p.Val580Ile)	SNV Germline	Chr8:89953351	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582596	rs_878854506	3 SubmittersRCV000232061 RCV004020790
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)	SNV Germline	Chr8:89958826	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802815	rs_756023239	10 SubmittersRCV000230649 RCV000446226 RCV001818596 RCV001770195 RCV003469157
NM_002485.5(NBN):c.769G>A (p.Glu257Lys)	SNV Germline	Chr8:89970491	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582602	rs_878854516	2 SubmittersRCV000227599 RCV004020791
NM_002485.5(NBN):c.37+7G>A	SNV Germline	Chr8:89984518	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA4803095	rs_372850559	4 SubmittersRCV000226027 RCV000583671 RCV003479072
NM_002485.5(NBN):c.37+6G>C	SNV Germline	Chr8:89984519	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4803097	rs_540868733	7 SubmittersRCV000231974 RCV000590289 RCV004017531
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)	SNV Germline	Chr8:89984528	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Conflicting Classifications	CA10582607	rs_878854511	6 SubmittersRCV000228075 RCV000762529 RCV000772147 RCV003475060
NM_002485.5(NBN):c.432A>G (p.Thr144=)	SNV Germline	Chr8:89980782	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10604979	rs_886043003	4 SubmittersRCV000394577 RCV001022303 RCV001436992
NM_002485.5(NBN):c.*987T>G	SNV Germline	Chr8:89934595	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10628378	rs_78935210	2 SubmittersRCV000313620 RCV003422362
NM_002485.5(NBN):c.1383G>A (p.Pro461=)	SNV Germline	Chr8:89955297	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10631749	rs_886063169	5 SubmittersRCV000357753 RCV000431381 RCV000566911
NM_002485.5(NBN):c.2185-1G>A	SNV Germline	Chr8:89937076	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16041200	rs_1057517262	6 SubmittersRCV000409942 RCV001014719 RCV003470351
NM_002485.5(NBN):c.1846-1G>A	SNV Germline	Chr8:89947893	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer Aplastic anemia	Criteria Provided Conflicting Classifications	CA16041206	rs_61753717	5 SubmittersRCV000411891 RCV000572719 RCV003168596 RCV004567888
NM_002485.5(NBN):c.1125-1G>A	SNV Unknown	Chr8:89955556	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA16041208	rs_1057517102	1 SubmittersRCV000412152
NM_002485.5(NBN):c.1124+1G>A	SNV Germline	Chr8:89958724	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA16041209	rs_1057517209	2 SubmittersRCV000410092
NM_002485.5(NBN):c.702+1G>A	SNV Germline	Chr8:89971172	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA16041210	rs_1057517104	4 SubmittersRCV000411476 RCV002365446 RCV003168594
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	SNV Germline	Chr8:89981430	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Acute lymphoid leukemia Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Gastric cancer Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16041212	rs_1057516320	9 SubmittersRCV000410234 RCV001176293 RCV001782863 RCV002504201 RCV003168586 RCV003470325
NM_002485.5(NBN):c.171+1G>A	SNV Germline	Chr8:89982721	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16041215	rs_931715719	8 SubmittersRCV000409002 RCV000759169 RCV001012839 RCV003475941
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)	SNV Germline	Chr8:89955555	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA16044374	rs_1057519588	2 SubmittersRCV000417077
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)	SNV Germline	Chr8:89980884	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Single Submitter	CA16044376	rs_1057519585	2 SubmittersRCV000417080 RCV003138000
NM_002485.5(NBN):c.24G>A (p.Ala8=)	SNV Germline	Chr8:89984538	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4803103	rs_779543740	5 SubmittersRCV000570467 RCV001064416 RCV001704270
NM_002485.5(NBN):c.1397+4T>C	SNV Germline	Chr8:89955279	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802756	rs_770699381	4 SubmittersRCV000418813 RCV001011354 RCV001307656
NM_002485.5(NBN):c.321-17C>G	SNV Germline	Chr8:89980910	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4803000	rs_763878712	4 SubmittersRCV000434657 RCV000679463 RCV001800667
NM_002485.5(NBN):c.37+3A>G	SNV Germline	Chr8:89984522	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome NBN-related disorder	Criteria Provided Conflicting Classifications	CA4803098	rs_764356392	5 SubmittersRCV000432255 RCV000473199 RCV000582301 RCV003942385
NM_002485.5(NBN):c.584+9T>C	SNV Germline	Chr8:89978211	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802943	rs_746913991	6 SubmittersRCV000443854 RCV000459632 RCV001083819
NM_002485.5(NBN):c.798G>A (p.Pro266=)	SNV Germline	Chr8:89970462	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA4802884	rs_368786672	6 SubmittersRCV000418518 RCV000459383 RCV000566951 RCV001357322 RCV002473004
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)	SNV Germline	Chr8:89953536	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA16612360	rs_1060503480	1 SubmittersRCV000473949
NM_002485.5(NBN):c.37+6G>A	SNV Germline	Chr8:89984519	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4803096	rs_540868733	7 SubmittersRCV000457854 RCV001721502 RCV001821292
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)	SNV Germline	Chr8:89953246	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome not specified Aplastic anemia NBN-related disorder	Criteria Provided Conflicting Classifications	CA4802679	rs_746632073	8 SubmittersRCV000471606 RCV000483350 RCV000569351 RCV001290536 RCV003476116 RCV004745405
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)	SNV Germline	Chr8:89953335	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast not specified Acute lymphoid leukemia Aplastic anemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802685	rs_763926389	9 SubmittersRCV000461649 RCV000567576 RCV000679454 RCV001358087 RCV002282161 RCV002475888
NM_002485.5(NBN):c.896+7A>G	SNV Germline	Chr8:89970357	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA16612494	rs_1060504926	2 SubmittersRCV000469470 RCV003478043
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)	SNV Germline	Chr8:89980831	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16612505	rs_1060503463	2 SubmittersRCV000467395 RCV002365663
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)	SNV Germline	Chr8:89955406	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612541	rs_1060503478	4 SubmittersRCV000463281 RCV000565324 RCV002279233
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)	SNV Germline	Chr8:89955503	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA16612543	rs_941732827	7 SubmittersRCV000468237 RCV000570523 RCV001194317 RCV001800687
NM_002485.5(NBN):c.396A>G (p.Ile132Met)	SNV Germline	Chr8:89980818	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612674	rs_1060503462	4 SubmittersRCV000460586 RCV001021549 RCV001800688
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)	SNV Germline	Chr8:89943276	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16618697	rs_1064795816	5 SubmittersRCV000486706 RCV000573618 RCV001383121 RCV003470579
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)	SNV Germline	Chr8:89947847	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA16618699	rs_1064793477	4 SubmittersRCV000486410 RCV001013475 RCV001309682
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)	SNV Germline	Chr8:89953247	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802680	rs_770345026	7 SubmittersRCV000483770 RCV000567792 RCV000551607 RCV000985869
NM_002485.5(NBN):c.1594G>A (p.Val532Met)	SNV Germline	Chr8:89953495	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802701	rs_545435120	5 SubmittersRCV000484172 RCV000550537 RCV001012314
NM_002485.5(NBN):c.1398-17T>G	SNV Germline	Chr8:89953708	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802735	rs_561077201	2 SubmittersRCV000480010 RCV002063747
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly)	SNV Germline	Chr8:89958786	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802810	rs_762376159	5 SubmittersRCV000484152 RCV000527248 RCV001009794
NM_002485.5(NBN):c.702+1G>T	SNV Germline	Chr8:89971172	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA16618704	rs_1057517104	2 SubmittersRCV000481637 RCV001203346
NM_002485.5(NBN):c.481-2A>G	SNV Germline	Chr8:89978325	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA16618708	rs_751567476	3 SubmittersRCV000483114 RCV001184207 RCV002525921
NM_002485.5(NBN):c.2T>C (p.Met1Thr)	SNV Germline	Chr8:89984560	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4803109	rs_746422391	4 SubmittersRCV000484157 RCV000695139 RCV001184071
NM_002485.5(NBN):c.2234+9T>G	SNV Germline	Chr8:89937017	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA583377701	rs_1446505128	2 SubmittersRCV000506398 RCV000926687
NM_002485.5(NBN):c.702+9G>A	SNV Germline	Chr8:89971164	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA4802910	rs_748373099	8 SubmittersRCV000506857 RCV000581237 RCV000679467 RCV001085475 RCV001355731
NM_002485.5(NBN):c.207A>G (p.Lys69=)	SNV Germline	Chr8:89981488	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4803020	rs_754352569	5 SubmittersRCV000507040 RCV000808156 RCV004023420
NM_002485.5(NBN):c.481-2A>T	SNV Germline	Chr8:89978325	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA4802955	rs_751567476	9 SubmittersRCV000523496 RCV000569604 RCV000707500 RCV002497023 RCV003470656
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)	SNV Germline	Chr8:89937066	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371674821	rs_1554554265	2 SubmittersRCV000552881 RCV002431579
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)	SNV Germline	Chr8:89943354	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675852	rs_1554555835	1 SubmittersRCV000556515
NM_002485.5(NBN):c.1915-5T>G	SNV Germline	Chr8:89946300	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA658657785	rs_1554556608	3 SubmittersRCV000547745 RCV001800748 RCV003470736
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)	SNV Germline	Chr8:89955298	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified NBN-related disorder Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802760	rs_367760321	11 SubmittersRCV000539528 RCV000567288 RCV001591216 RCV001821527 RCV003419937 RCV003476251
NM_002485.5(NBN):c.1255A>C (p.Asn419His)	SNV Germline	Chr8:89955425	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802771	rs_730881849	3 SubmittersRCV000559800 RCV001010572
NM_002485.5(NBN):c.995-1G>C	SNV Germline	Chr8:89958855	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656826	rs_1554560523	1 SubmittersRCV000554271
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr)	SNV Germline	Chr8:89947838	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371677210	rs_1554556892	2 SubmittersRCV000534847 RCV004943964
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)	SNV Germline	Chr8:89953531	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181257926	rs_944499155	3 SubmittersRCV000536553 RCV000573249
NM_002485.5(NBN):c.1170A>G (p.Glu390=)	SNV Germline	Chr8:89955510	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA462115050	rs_1554559326	3 SubmittersRCV000541197 RCV000582045 RCV001417903
NM_002485.5(NBN):c.994+5T>C	SNV Germline	Chr8:89964405	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802840	rs_778254433	3 SubmittersRCV000546426 RCV000574546
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)	SNV Germline	Chr8:89964469	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371657029	rs_371480039	3 SubmittersRCV000544042
NM_002485.5(NBN):c.45A>C (p.Pro15=)	SNV Germline	Chr8:89982848	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461831586	rs_577332041	2 SubmittersRCV001438018 RCV004023856
NM_002485.5(NBN):c.994+1G>T	SNV Germline	Chr8:89964409	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371656834	rs_1554562083	5 SubmittersRCV000553121 RCV000755042 RCV003328595 RCV003459221
NM_002485.5(NBN):c.804G>T (p.Thr268=)	SNV Germline	Chr8:89970456	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461830826	rs_141443872	4 SubmittersRCV000544774 RCV001328442 RCV002413489
NM_002485.5(NBN):c.64G>T (p.Val22Phe)	SNV Germline	Chr8:89982829	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371663582	rs_369910645	2 SubmittersRCV000540870 RCV004943965
NM_002485.5(NBN):c.702+1G>C	SNV Germline	Chr8:89971172	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371658914	rs_1057517104	3 SubmittersRCV000542087 RCV002367818
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	SNV Germline	Chr8:89935609	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802562	rs_751570713	6 SubmittersRCV000564630 RCV000578737 RCV000698449 RCV004569120
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)	SNV Germline	Chr8:89946169	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371676380	rs_1554556485	2 SubmittersRCV000567898 RCV001858377
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)	SNV Germline	Chr8:89953390	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371655291	rs_1554558312	3 SubmittersRCV000563554 RCV000796112
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)	SNV Germline	Chr8:89943297	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802601	rs_730881864	6 SubmittersRCV000575176 RCV000636782 RCV001584370
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)	SNV Germline	Chr8:89943309	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371675559	rs_1554555808	3 SubmittersRCV000568915 RCV000704836
NM_002485.5(NBN):c.1410A>G (p.Glu470=)	SNV Germline	Chr8:89953679	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA462114864	rs_1554558592	4 SubmittersRCV000572616 RCV001764653 RCV001800780
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)	SNV Germline	Chr8:89953690	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371655931	rs_1554558613	5 SubmittersRCV000571949 RCV000801906 RCV001356206 RCV004569156
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)	SNV Germline	Chr8:89955401	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia	Criteria Provided Conflicting Classifications	CA371656207	rs_1554559171	4 SubmittersRCV000569911 RCV001054209 RCV002491138
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)	SNV Germline	Chr8:89955509	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371656435	rs_1554559323	4 SubmittersRCV000569344 RCV000694464 RCV001783067
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)	SNV Germline	Chr8:89955412	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656233	rs_1444306607	3 SubmittersRCV000572328 RCV001041861
NM_002485.5(NBN):c.1124+1G>C	SNV Germline	Chr8:89958724	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656555	rs_1057517209	2 SubmittersRCV000569288 RCV001853723
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)	SNV Germline	Chr8:89955448	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802777	rs_551032019	4 SubmittersRCV000574288 RCV000694630 RCV000833202
NM_002485.5(NBN):c.2184+1G>A	SNV Germline	Chr8:89943252	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA181273259	rs_756363734	2 SubmittersRCV000569113 RCV000822720
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)	SNV Germline	Chr8:89946217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371676482	rs_1554556544	3 SubmittersRCV000570062 RCV000684896
NM_002485.5(NBN):c.193G>A (p.Val65Ile)	SNV Germline	Chr8:89981502	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA4803022	rs_778998026	4 SubmittersRCV000565097 RCV001039847 RCV003479166
NM_002485.5(NBN):c.315A>G (p.Lys105=)	SNV Germline	Chr8:89981380	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831423	rs_13312858	3 SubmittersRCV000567799 RCV000707282
NM_002485.5(NBN):c.27C>T (p.Gly9=)	SNV Germline	Chr8:89984535	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831602	rs_1554569662	4 SubmittersRCV000562307 RCV000611690 RCV000704342
NM_002485.5(NBN):c.1657A>G (p.Met553Val)	SNV Germline	Chr8:89953432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802693	rs_746347634	6 SubmittersRCV000573104 RCV000636736 RCV000985868
NM_002485.5(NBN):c.36A>C (p.Gly12=)	SNV Germline	Chr8:89984526	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831594	rs_1554569658	3 SubmittersRCV000566109 RCV001235497
NM_002485.5(NBN):c.1395A>G (p.Lys465=)	SNV Germline	Chr8:89955285	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA462114815	rs_1213870507	2 SubmittersRCV000563286 RCV001449253
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)	SNV Germline	Chr8:89947868	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA181275404	rs_962092255	6 SubmittersRCV000565273 RCV000687082 RCV003465269
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)	SNV Germline	Chr8:89953578	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802708	rs_757754183	4 SubmittersRCV000566537 RCV000815889
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)	SNV Germline	Chr8:89953587	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371655727	rs_1554558472	6 SubmittersRCV000568444 RCV000657733 RCV001005050 RCV001388337 RCV004569121
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly)	SNV Germline	Chr8:89955368	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656141	rs_1456827107	3 SubmittersRCV000573699 RCV001063253
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)	SNV Germline	Chr8:89955533	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656492	rs_772909239	3 SubmittersRCV000573508 RCV001341050
NM_002485.5(NBN):c.1125-4A>G	SNV Germline	Chr8:89955559	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA658657802	rs_1554559375	3 SubmittersRCV000562845 RCV001400116
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)	SNV Germline	Chr8:89958725	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656558	rs_1394437421	2 SubmittersRCV000564232 RCV001858316
NM_002485.5(NBN):c.584+5A>G	SNV Germline	Chr8:89978215	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA583375382	rs_1309889719	3 SubmittersRCV000565579 RCV000636761
NM_002485.5(NBN):c.480A>G (p.Lys160=)	SNV Germline	Chr8:89980734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831330	rs_1554567842	3 SubmittersRCV000567562 RCV000636809
NM_002485.5(NBN):c.320+1G>A	SNV Germline	Chr8:89981374	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662236	rs_1364533250	2 SubmittersRCV000564864 RCV001276022
NM_002485.5(NBN):c.1915-8C>T	SNV Germline	Chr8:89946303	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802640	rs_368132097	4 SubmittersRCV000579007 RCV000636792 RCV002257847
NM_002485.5(NBN):c.2070+1G>A	SNV Germline	Chr8:89946139	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371676311	rs_1554556454	4 SubmittersRCV000580887 RCV000671660
NM_002485.5(NBN):c.171+3A>G	SNV Germline	Chr8:89982719	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA658683518	rs_1487002693	5 SubmittersRCV000580790 RCV001229330 RCV003459435
NM_002485.5(NBN):c.2235A>G (p.Arg745=)	SNV Germline	Chr8:89935612	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802563	rs_754865465	2 SubmittersRCV000581635 RCV001853930
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)	SNV Germline	Chr8:89984555	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA4803108	rs_779098734	3 SubmittersRCV000581960 RCV000707330
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)	SNV Germline	Chr8:89978239	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371660147	rs_1198614767	2 SubmittersRCV001853931 RCV003465314
NM_002485.5(NBN):c.-10A>T	SNV Germline	Chr8:89984571	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA4803113	rs_759094270	5 SubmittersRCV000586130 RCV001800804 RCV003420019
NM_002485.5(NBN):c.37+8C>T	SNV Germline	Chr8:89984517	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831591	rs_1554569655	3 SubmittersRCV000615842 RCV000636710
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)	SNV Germline	Chr8:89970389	Pathogenic/Likely pathogenic	Premature ovarian insufficiency Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371658288	rs_1554563822	3 SubmittersRCV000656225 RCV001387363 RCV004721470
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)	SNV Germline	Chr8:89970428	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA371658496	rs_1225178489	7 SubmittersRCV000589829 RCV000701071 RCV000772494 RCV001355653 RCV003492114
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)	SNV Germline	Chr8:89981520	Pathogenic/Likely pathogenic	Hereditary breast ovarian cancer syndrome Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371662638	rs_1554568427	6 SubmittersRCV000586448 RCV000688264 RCV001013002 RCV003471944 RCV003133388
NM_002485.5(NBN):c.584+6T>C	SNV Germline	Chr8:89978214	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA658797119	rs_1554566602	4 SubmittersRCV000612983 RCV000698403 RCV001284317
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)	SNV Germline	Chr8:89937072	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371674836	rs_1554554267	1 SubmittersRCV000636698
NM_002485.5(NBN):c.2071-2A>C	SNV Germline	Chr8:89943368	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA4802608	rs_775397477	1 SubmittersRCV000636778
NM_002485.5(NBN):c.2022C>T (p.Gly674=)	SNV Germline	Chr8:89946188	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461837692	rs_1554556503	3 SubmittersRCV000636771 RCV000773236
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)	SNV Germline	Chr8:89953374	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA371655253	rs_1554558303	6 SubmittersRCV000636718 RCV001525100 RCV002464275 RCV004568399
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)	SNV Germline	Chr8:89953339	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655176	rs_1554558270	1 SubmittersRCV000636737
NM_002485.5(NBN):c.1483C>T (p.Pro495Ser)	SNV Germline	Chr8:89953606	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371655760	rs_747027298	2 SubmittersRCV000636740 RCV004025480
NM_002485.5(NBN):c.1124+2T>G	SNV Germline	Chr8:89958723	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656551	rs_1554560352	1 SubmittersRCV000636717
NM_002485.5(NBN):c.818C>T (p.Thr273Ile)	SNV Germline	Chr8:89970442	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371658541	rs_1554563912	4 SubmittersRCV000636779 RCV001525443
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)	SNV Unknown	Chr8:89935609	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_751570713	1 SubmittersRCV000670725
NM_002485.5(NBN):c.585-1G>A	SNV Germline	Chr8:89971291	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1394578008	3 SubmittersRCV000666840 RCV001592845
NM_002485.5(NBN):c.2235-2A>G	SNV Germline	Chr8:89935614	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_767094704	2 SubmittersRCV000669126 RCV003303097
NM_002485.5(NBN):c.995-2A>C	SNV Germline	Chr8:89958856	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_876659521	3 SubmittersRCV000669315 RCV004026108
NM_002485.5(NBN):c.1622C>T (p.Ala541Val)	SNV Germline	Chr8:89953467	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Conflicting Classifications		rs_876658501	3 SubmittersRCV000687714 RCV001805803 RCV003465562
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)	SNV Germline	Chr8:89971229	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_769416	3 SubmittersRCV000688542 RCV001025298
NM_002485.5(NBN):c.1670C>T (p.Ala557Val)	SNV Germline	Chr8:89953419	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1286743873	2 SubmittersRCV000688543 RCV002397380
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)	SNV Germline	Chr8:89953683	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_780365310	5 SubmittersRCV000697437 RCV001176913
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)	SNV Germline	Chr8:89955400	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_778881191	3 SubmittersRCV000700776 RCV001805815
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu)	SNV Germline	Chr8:89955527	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1563532612	3 SubmittersRCV000704263 RCV003153818 RCV004649287
NM_002485.5(NBN):c.585-2A>G	SNV Germline	Chr8:89971292	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_772005832	5 SubmittersRCV000700477 RCV002352187 RCV003465613 RCV004588139
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)	SNV Germline	Chr8:89981473	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1563581193	1 SubmittersRCV000696443
NM_002485.5(NBN):c.36A>T (p.Gly12=)	SNV Germline	Chr8:89984526	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1554569658	3 SubmittersRCV000707509 RCV002343576
NM_002485.5(NBN):c.390A>G (p.Gln130=)	SNV Germline	Chr8:89980824	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications		rs_146150499	6 SubmittersRCV001619837 RCV000768028 RCV000799906 RCV001021414 RCV002271580
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)	SNV Germline	Chr8:89953657	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1199013619	4 SubmittersRCV000773787 RCV001067584
NM_002485.5(NBN):c.958A>G (p.Lys320Glu)	SNV Germline	Chr8:89964446	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications		rs_1563548624	3 SubmittersRCV000773117 RCV001800872 RCV002249473
NM_002485.5(NBN):c.786C>G (p.Phe262Leu)	SNV Germline	Chr8:89970474	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_372159380	3 SubmittersRCV000775829 RCV001302594
NM_002485.5(NBN):c.692A>G (p.Asn231Ser)	SNV Germline	Chr8:89971183	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1309274168	4 SubmittersRCV000773378 RCV000809097 RCV000999052
NM_002485.5(NBN):c.474C>T (p.Thr158=)	SNV Germline	Chr8:89980740	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1563578527	2 SubmittersRCV000774889 RCV001474735
NM_002485.5(NBN):c.297T>C (p.Phe99=)	SNV Germline	Chr8:89981398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications		rs_1563580668	4 SubmittersRCV000772238 RCV001413593 RCV002225725
NM_002485.5(NBN):c.896+1G>T	SNV Germline	Chr8:89970363	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_778306619	1 SubmittersRCV001377438
NM_002485.5(NBN):c.896+1G>A	SNV Germline	Chr8:89970363	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Gastric cancer	Criteria Provided Multiple Submitters No Conflicts		rs_778306619	3 SubmittersRCV001873158 RCV003465700 RCV003166060
NM_002485.5(NBN):c.38-2A>G	SNV Germline	Chr8:89982857	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_771475965	4 SubmittersRCV000775396 RCV001067027 RCV003465698
NM_002485.5(NBN):c.702+8T>C	SNV Germline	Chr8:89971165	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1563561325	3 SubmittersRCV000781637 RCV001491898
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)	SNV Germline	Chr8:89953396	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1586053399	1 SubmittersRCV000792089
NM_002485.5(NBN):c.1448T>G (p.Ile483Arg)	SNV Germline	Chr8:89953641	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_876658347	2 SubmittersRCV000801918 RCV002388484
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)	SNV Germline	Chr8:89955353	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554559094	2 SubmittersRCV000799574 RCV003467379
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)	SNV Germline	Chr8:89955427	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1554559212	2 SubmittersRCV000819368 RCV002415924
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)	SNV Germline	Chr8:89955436	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_764832388	3 SubmittersRCV000792228 RCV001010512
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)	SNV Germline	Chr8:89964438	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Breast carcinoma	Criteria Provided Single Submitter		rs_748453607	2 SubmittersRCV000804176 RCV001564018
NM_002485.5(NBN):c.897G>A (p.Arg299=)	SNV Germline	Chr8:89964507	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_779798363	5 SubmittersRCV000816520 RCV001018584 RCV001564380
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)	SNV Germline	Chr8:89981445	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Gastric cancer Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1586108714	3 SubmittersRCV000804317 RCV003166237 RCV004028167
NM_002485.5(NBN):c.241G>T (p.Glu81Ter)	SNV Germline	Chr8:89981454	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1064795037	1 SubmittersRCV000794512
NM_002485.5(NBN):c.897-2A>G	SNV Germline	Chr8:89964509	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_864622090	1 SubmittersRCV000793764
NM_002485.5(NBN):c.896+2T>C	SNV Germline	Chr8:89970362	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Conflicting Classifications		rs_754659423	3 SubmittersRCV000815940 RCV002442734 RCV003467475
NM_002485.5(NBN):c.1845+2T>C	SNV Germline	Chr8:89953242	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1586052622	1 SubmittersRCV000800755
NM_002485.5(NBN):c.2071-8T>C	SNV Germline	Chr8:89943374	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1178683426	3 SubmittersRCV000875631 RCV004997445
NM_002485.5(NBN):c.270T>A (p.Thr90=)	SNV Germline	Chr8:89981425	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_776469548	3 SubmittersRCV000925079 RCV003169326 RCV003478581
NM_002485.5(NBN):c.1845+10A>G	SNV Germline	Chr8:89953234	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications		rs_570914185	4 SubmittersRCV000927165 RCV001401955 RCV001818889
NM_002485.5(NBN):c.897-5A>G	SNV Germline	Chr8:89964512	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1586076321	2 SubmittersRCV000927067 RCV002445037
NM_002485.5(NBN):c.584+2T>C	SNV Germline	Chr8:89978218	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1586101154	4 SubmittersRCV001004533 RCV001024591 RCV003467575
NM_002485.5(NBN):c.1248G>A (p.Met416Ile)	SNV Germline	Chr8:89955432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_756572268	3 SubmittersRCV001010556 RCV002295316
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)	SNV Germline	Chr8:89958760	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_121908974	3 SubmittersRCV001009876 RCV001800916
NM_002485.5(NBN):c.800G>A (p.Gly267Glu)	SNV Germline	Chr8:89970460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_747837246	3 SubmittersRCV001027059 RCV001066171
NM_002485.5(NBN):c.320G>A (p.Arg107Lys)	SNV Germline	Chr8:89981375	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1345924774	3 SubmittersRCV001019241 RCV001228207
NM_002485.5(NBN):c.2234+1G>T	SNV Germline	Chr8:89937025	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1586024147	2 SubmittersRCV001014894 RCV001236246
NM_002485.5(NBN):c.2071-4A>T	SNV Germline	Chr8:89943370	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_746994234	4 SubmittersRCV001014289 RCV001800923
NM_002485.5(NBN):c.897-1G>A	SNV Germline	Chr8:89964508	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1586076299	2 SubmittersRCV001018577 RCV001873311
NM_002485.5(NBN):c.585-5T>A	SNV Germline	Chr8:89971295	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1586088968	2 SubmittersRCV001024605 RCV003617889
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)	SNV Germline	Chr8:89943264	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1810030774	1 SubmittersRCV001071287
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)	SNV Germline	Chr8:89953444	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1810540992	4 SubmittersRCV001060946 RCV001270950 RCV002402432 RCV003473674
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)	SNV Germline	Chr8:89953593	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_772411713	3 SubmittersRCV001057404 RCV003467785 RCV004031809
NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser)	SNV Germline	Chr8:89955394	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_370121348	2 SubmittersRCV001051883 RCV004639446
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)	SNV Germline	Chr8:89971271	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1811506628	1 SubmittersRCV001067860
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)	SNV Germline	Chr8:89980785	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1812023981	3 SubmittersRCV001061415 RCV003462589
NM_002485.5(NBN):c.1846-1G>T	SNV Germline	Chr8:89947893	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_61753717	1 SubmittersRCV001043646
NM_002485.5(NBN):c.2234+1G>A	SNV Germline	Chr8:89937025	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1586024147	1 SubmittersRCV001062133
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly)	SNV Germline	Chr8:89947852	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1586043675	2 SubmittersRCV001162815 RCV004639487
NM_002485.5(NBN):c.567G>A (p.Gln189=)	SNV Germline	Chr8:89978237	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1203807404	3 SubmittersRCV001161378
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)	SNV Germline	Chr8:89953437	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Aplastic anemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1586053587	3 SubmittersRCV001191742 RCV003469306 RCV001863040
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)	SNV Germline	Chr8:89953538	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_876658744	3 SubmittersRCV001187829 RCV001323375
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)	SNV Germline	Chr8:89955460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1473253247	4 SubmittersRCV001178736 RCV001341643
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)	SNV Germline	Chr8:89982778	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_377730553	2 SubmittersRCV001186594 RCV001862938
NM_002485.5(NBN):c.584+1G>A	SNV Germline	Chr8:89978219	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1811862598	2 SubmittersRCV001185847 RCV001862922
NM_002485.5(NBN):c.2185-7T>G	SNV Germline	Chr8:89937082	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1563497932	2 SubmittersRCV001428981
NM_002485.5(NBN):c.1846-13T>A	SNV Germline	Chr8:89947905	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1810272926	2 SubmittersRCV001186082 RCV003770074
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly)	SNV Germline	Chr8:89953287	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_553571469	2 SubmittersRCV001217851 RCV002411808
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)	SNV Germline	Chr8:89980778	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1812023357	2 SubmittersRCV001220913 RCV002327522
NM_002485.5(NBN):c.1845T>C (p.Ser615=)	SNV Germline	Chr8:89953244	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1810519877	2 SubmittersRCV001206590 RCV002411760
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)	SNV Germline	Chr8:89953348	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1337679118	5 SubmittersRCV001204081 RCV003473744 RCV002411748
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)	SNV Germline	Chr8:89980855	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1563579387	3 SubmittersRCV001206069 RCV003346362 RCV003469334
NM_002485.5(NBN):c.322A>G (p.Ile108Val)	SNV Germline	Chr8:89980892	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1286492027	2 SubmittersRCV001213378 RCV002322033
NM_002485.5(NBN):c.995-1G>T	SNV Germline	Chr8:89958855	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1554560523	1 SubmittersRCV001214272
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)	SNV Germline	Chr8:89947889	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_766602873	2 SubmittersRCV001238488 RCV003478747
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr8:89953573	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_876658535	2 SubmittersRCV001227877 RCV003294092
NM_002485.5(NBN):c.20C>T (p.Ala7Val)	SNV Germline	Chr8:89984542	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_781057669	2 SubmittersRCV001236445 RCV002418811
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr)	SNV Germline	Chr8:89953362	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1255733657	2 SubmittersRCV001248747 RCV002402794
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)	SNV Germline	Chr8:89955287	Pathogenic	Breast and/or ovarian cancer Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1563530658	2 SubmittersRCV001270949 RCV003617920
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)	SNV Germline	Chr8:89984557	Pathogenic	Breast and/or ovarian cancer Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1812244679	2 SubmittersRCV001270990 RCV002537743
NM_002485.5(NBN):c.189C>T (p.Ile63=)	SNV Germline	Chr8:89981506	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1554568383	4 SubmittersRCV001284191 RCV001524765 RCV001426679
NM_002485.5(NBN):c.584G>A (p.Ser195Asn)	SNV Germline	Chr8:89978220	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1811862674	4 SubmittersRCV001310162 RCV001368080 RCV003478769
NM_002485.5(NBN):c.2184+2T>G	SNV Germline	Chr8:89943251	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_75823099	2 SubmittersRCV001379405 RCV002432064
NM_002485.5(NBN):c.2184+2T>A	SNV Germline	Chr8:89943251	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_75823099	1 SubmittersRCV001379478
NM_002485.5(NBN):c.2071-2A>G	SNV Germline	Chr8:89943368	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_775397477	1 SubmittersRCV001378341
NM_002485.5(NBN):c.1914+2T>G	SNV Germline	Chr8:89947822	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129659522	1 SubmittersRCV001377502
NM_002485.5(NBN):c.995G>A (p.Gly332Glu)	SNV Germline	Chr8:89958854	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129747182	1 SubmittersRCV001377833
NM_002485.5(NBN):c.702+2T>C	SNV Germline	Chr8:89971171	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1811497703	2 SubmittersRCV001377651 RCV003473905
NM_002485.5(NBN):c.702+2T>A	SNV Germline	Chr8:89971171	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1811497703	1 SubmittersRCV001376929
NM_002485.5(NBN):c.172-1G>T	SNV Germline	Chr8:89981524	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1391598284	1 SubmittersRCV001378799
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)	SNV Germline	Chr8:89943348	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1038132485	1 SubmittersRCV001387991
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)	SNV Germline	Chr8:89946217	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1554556544	1 SubmittersRCV001388858
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)	SNV Germline	Chr8:89953593	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_772411713	1 SubmittersRCV001387053
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr8:89953672	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_755805461	3 SubmittersRCV001385912 RCV004945110
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr8:89955488	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129721263	1 SubmittersRCV001390505
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)	SNV Germline	Chr8:89955490	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1554559308	1 SubmittersRCV001388920
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)	SNV Germline	Chr8:89958743	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Aplastic anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2129744741	4 SubmittersRCV001386835 RCV002476731 RCV003469725 RCV004037684
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)	SNV Germline	Chr8:89978224	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554566610	4 SubmittersRCV001380565 RCV002357286 RCV003127859 RCV003469651
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)	SNV Germline	Chr8:89982845	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2129926091	2 SubmittersRCV001385181 RCV003399206
NM_002485.5(NBN):c.481-7A>G	SNV Germline	Chr8:89978330	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_2129890380	2 SubmittersRCV001395703 RCV004998871
NM_002485.5(NBN):c.2071-6C>A	SNV Germline	Chr8:89943372	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_768670249	2 SubmittersRCV001427677
NM_002485.5(NBN):c.790T>C (p.Leu264=)	SNV Germline	Chr8:89970470	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2129829667	3 SubmittersRCV001438933 RCV002420990 RCV004783969
NM_002485.5(NBN):c.1332T>C (p.Asp444=)	SNV Germline	Chr8:89955348	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1810653364	2 SubmittersRCV001454518 RCV004998907
NM_002485.5(NBN):c.1191A>G (p.Ser397=)	SNV Germline	Chr8:89955489	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_2129721280	3 SubmittersRCV001451978 RCV002342001 RCV003478839
NM_002485.5(NBN):c.995-5T>C	SNV Germline	Chr8:89958859	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications		rs_2129747292	2 SubmittersRCV001481456 RCV003994293
NM_002485.5(NBN):c.585-5T>C	SNV Germline	Chr8:89971295	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1586088968	3 SubmittersRCV001505889 RCV001525104
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)	SNV Germline	Chr8:89981478	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_2129915767	2 SubmittersRCV002568061 RCV003470849
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)	SNV Germline	Chr8:89953597	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_915825113	3 SubmittersRCV001568147 RCV001832777 RCV004039356
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)	SNV Germline	Chr8:89955533	Pathogenic/Likely pathogenic	Ovarian carcinoma Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_772909239	3 SubmittersRCV001648486 RCV001873820 RCV003470874
NM_002485.5(NBN):c.481-5T>C	SNV Germline	Chr8:89978328	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_2129890359	2 SubmittersRCV001772463 RCV002074009
NM_002485.5(NBN):c.839C>T (p.Thr280Ile)	SNV Germline	Chr8:89970421	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_2129828243	3 SubmittersRCV001763149 RCV002440854 RCV002540321
NM_002485.5(NBN):c.2260A>C (p.Arg754=)	SNV Germline	Chr8:89935587	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_2130735641	2 SubmittersRCV001771302 RCV002540531
NM_002485.5(NBN):c.2070+1G>T	SNV Germline	Chr8:89946139	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1554556454	2 SubmittersRCV001753232 RCV003617939
NM_002485.5(NBN):c.2140C>A (p.Arg714=)	SNV Germline	Chr8:89943297	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_730881864	3 SubmittersRCV001819270 RCV003507398 RCV004040971
NM_002485.5(NBN):c.1845+1G>A	SNV Germline/somatic	Chr8:89953243	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2129695663	3 SubmittersRCV001818104 RCV001885361 RCV002406900
NM_002485.5(NBN):c.994+2T>C	SNV Germline	Chr8:89964408	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1586075690	2 SubmittersRCV002026037 RCV002386888
NM_002485.5(NBN):c.1599A>G (p.Lys533=)	SNV Germline	Chr8:89953490	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2129700342	2 SubmittersRCV001944815 RCV002397806
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)	SNV Germline	Chr8:89946228	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1810183784	2 SubmittersRCV001897734 RCV004041330
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)	SNV Germline	Chr8:89981397	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2129914287	2 SubmittersRCV001864972 RCV002440930
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)	SNV Germline	Chr8:89955512	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2129721628	2 SubmittersRCV001960653 RCV003289305
NM_002485.5(NBN):c.171+1G>T	SNV Germline	Chr8:89982721	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_931715719	1 SubmittersRCV002034356
NM_002485.5(NBN):c.171+1G>C	SNV Germline	Chr8:89982721	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_931715719	1 SubmittersRCV002034449
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)	SNV Germline	Chr8:89953506	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129700612	1 SubmittersRCV001908318
NM_002485.5(NBN):c.994G>A (p.Gly332Arg)	SNV Germline	Chr8:89964410	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1437392838	2 SubmittersRCV002019619 RCV003348737
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)	SNV Germline	Chr8:89981417	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_12721593	2 SubmittersRCV001884264 RCV003470998
NM_002485.5(NBN):c.172-2A>T	SNV Germline	Chr8:89981525	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129916685	1 SubmittersRCV001961761
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)	SNV Germline	Chr8:89947849	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1810267412	3 SubmittersRCV001947519 RCV002406960 RCV004571457
NM_002485.5(NBN):c.481-2A>C	SNV Germline	Chr8:89978325	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_751567476	1 SubmittersRCV001971340
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)	SNV Germline	Chr8:89964438	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_748453607	2 SubmittersRCV001994742 RCV003475215
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)	SNV Germline	Chr8:89958821	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1810856747	2 SubmittersRCV002002429 RCV002386816
NM_002485.5(NBN):c.1473A>G (p.Glu491=)	SNV Germline	Chr8:89953616	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2129702949	2 SubmittersRCV001955418 RCV002388895
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)	SNV Germline	Chr8:89947843	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2129659855	2 SubmittersRCV001999711 RCV002407175
NM_002485.5(NBN):c.172-1G>A	SNV Germline	Chr8:89981524	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1391598284	1 SubmittersRCV002048065
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)	SNV Germline	Chr8:89955490	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1554559308	2 SubmittersRCV001956253
NM_002485.5(NBN):c.2070+2T>A	SNV Germline	Chr8:89946138	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_786203223	1 SubmittersRCV001996041
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)	SNV Germline	Chr8:89982750	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129924518	1 SubmittersRCV001959178
NM_002485.5(NBN):c.1398-2A>G	SNV Germline	Chr8:89953693	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2129704501	1 SubmittersRCV002010366
NM_002485.5(NBN):c.742G>T (p.Glu248Ter)	SNV Germline	Chr8:89970518	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_1811464271	1 SubmittersRCV001940815
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)	SNV Germline	Chr8:89953252	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554558199	3 SubmittersRCV001863317 RCV002406928 RCV004571430
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)	SNV Germline	Chr8:89946151	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter		rs_2130763590	1 SubmittersRCV001996808
NM_002485.5(NBN):c.1125-11T>G	SNV Germline	Chr8:89955566	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1373365760	2 SubmittersRCV002202436 RCV003234167
NM_002485.5(NBN):c.995-4A>G	SNV Germline	Chr8:89958858	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_2129747280	2 SubmittersRCV002113593 RCV004999654
NM_002485.5(NBN):c.2185-12T>G	SNV Germline	Chr8:89937087	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_373516568	2 SubmittersRCV002099636 RCV002258359
NM_002485.5(NBN):c.1891C>T (p.Leu631=)	SNV Germline	Chr8:89947847	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1064793477	2 SubmittersRCV002117124 RCV002409504
NM_002485.5(NBN):c.1125-12C>G	SNV Germline	Chr8:89955567	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_1810676263	2 SubmittersRCV002257309 RCV003774785
NM_002485.5(NBN):c.38-12A>G	SNV Germline	Chr8:89982867	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications		rs_773524364	2 SubmittersRCV002257310 RCV003101427
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)	SNV Germline	Chr8:89970491	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002306733 RCV003308128
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)	SNV Unknown	Chr8:89946163	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309821
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)	SNV Unknown	Chr8:89981388	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002307901
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)	SNV Unknown	Chr8:89955373	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002308118
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)	SNV Unknown	Chr8:89981382	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002310521
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)	SNV Unknown	Chr8:89953449	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002308431
NM_002485.5(NBN):c.480+2T>G	SNV Germline	Chr8:89980732	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002337877 RCV003096473
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)	SNV Germline	Chr8:89955393	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002383218 RCV003094921 RCV004572399
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)	SNV Germline	Chr8:89943285	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003089653 RCV003161760
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)	SNV Germline	Chr8:89953609	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002797046
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)	SNV Germline	Chr8:89947842	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002875551 RCV003167840
NM_002485.5(NBN):c.1125-1G>C	SNV Germline	Chr8:89955556	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002894487
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)	SNV Germline	Chr8:89953655	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV002894701
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)	SNV Germline	Chr8:89970405	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003029514
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)	SNV Germline	Chr8:89953506	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003032194
NM_002485.5(NBN):c.1914+1G>T	SNV Germline	Chr8:89947823	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003049650
NM_002485.5(NBN):c.1845+2T>G	SNV Germline	Chr8:89953242	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003047186
NM_002485.5(NBN):c.2185-5G>A	SNV Germline	Chr8:89937080	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003172487 RCV003618055
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)	SNV Germline	Chr8:89953561	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003507483 RCV003172490
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)	SNV Germline	Chr8:89955458	Pathogenic/Likely pathogenic	Aplastic anemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003470300 RCV003618081
NM_002485.5(NBN):c.1397+1G>A	SNV Germline	Chr8:89955282	Conflicting classifications of pathogenicity	Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV003476516 RCV003618082 RCV004364787
NM_002485.5(NBN):c.2071-1G>T	SNV Germline	Chr8:89943367	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003507550
NM_002485.5(NBN):c.321-1G>A	SNV Germline	Chr8:89980894	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003508341
NM_002485.5(NBN):c.2071-2A>T	SNV Germline	Chr8:89943368	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003507081
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)	SNV Germline	Chr8:89955306	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003507753
NM_002485.5(NBN):c.700C>T (p.Gln234Ter)	SNV Germline	Chr8:89971175	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003618236
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)	SNV Germline	Chr8:89955459	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003618281
NM_002485.5(NBN):c.584+1G>T	SNV Germline	Chr8:89978219	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003618364
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)	SNV Germline	Chr8:89971226	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003618538
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)	SNV Germline	Chr8:89978315	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003618619
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)	SNV Germline	Chr8:89970385	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV003618717

SNV
Germline

Chr8:89964428

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA197104

rs_121908973

6 SubmittersRCV000007359 RCV000166946

NM_002485.5(NBN):c.511A>G (p.Ile171Val)

SNV
Germline

Chr8:89978293

Conflicting classifications of pathogenicity

Aplastic anemia
Leukemia, acute lymphoblastic, susceptibility to
Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Carcinoma of colon
Hereditary cancer
NBN-related disorder
Diffuse midline glioma, H3 K27-altered
Pediatric high-grade glioma

Criteria Provided
Conflicting Classifications

CA160981

rs_61754966

27 SubmittersRCV000007360 RCV000007361 RCV000115797 RCV000121618 RCV000197512 RCV000490266 RCV000589577 RCV001030566 RCV001262350 RCV001358233 RCV003492288 RCV003891430 RCV004776268 RCV004776269

NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)

SNV
Germline

Chr8:89958760

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA254010

rs_121908974

6 SubmittersRCV000007362 RCV003329227 RCV003472997

NM_002485.5(NBN):c.643C>T (p.Arg215Trp)

SNV
Germline

Chr8:89971232

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA160990

rs_34767364

25 SubmittersRCV000007363 RCV000115802 RCV000121621 RCV000487932 RCV003891431

NM_002485.5(NBN):c.*401C>G

SNV
Germline

Chr8:89935181

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA230725

rs_104895030

3 SubmittersRCV000114873 RCV000316124

NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)

SNV
Germline

Chr8:89955418

Conflicting classifications of pathogenicity

Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA230729

rs_104895032

24 SubmittersRCV000515275 RCV000757930 RCV001358304 RCV000114875 RCV000115780 RCV000123203 RCV000212745

NM_002485.5(NBN):c.628G>T (p.Val210Phe)

SNV
Germline

Chr8:89971247

Conflicting classifications of pathogenicity

Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
NBN-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA160993

rs_61754796

23 SubmittersRCV000515300 RCV001358247 RCV003891593 RCV000114880 RCV000115801 RCV000121622 RCV000168062

NM_002485.5(NBN):c.1035C>T (p.Gly345=)

SNV
Germline

Chr8:89958814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287892

rs_146605798

12 SubmittersRCV000115775 RCV000587475 RCV001081028 RCV001818276 RCV003925115

NM_002485.5(NBN):c.1036G>A (p.Val346Met)

SNV
Germline

Chr8:89958813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of prostate
Aplastic anemia
Malignant tumor of breast
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287895

rs_200297914

17 SubmittersRCV000115776 RCV000212741 RCV000589164 RCV001082179 RCV001255161 RCV001293998 RCV001355371 RCV003945047

NM_002485.5(NBN):c.1091T>C (p.Val364Ala)

SNV
Germline

Chr8:89958758

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA287898

rs_370229163

6 SubmittersRCV000115777 RCV000217684 RCV000700024 RCV001818277

NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)

SNV
Germline

Chr8:89955442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA287901

rs_529340553

7 SubmittersRCV000222002 RCV000589729 RCV001087448

NM_002485.5(NBN):c.1317A>G (p.Ile439Met)

SNV
Germline

Chr8:89955363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Malignant tumor of breast
Condition: not provided
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA200704

rs_28538230

12 SubmittersRCV000115781 RCV000173760 RCV001082062 RCV001292773 RCV001355697 RCV001719859 RCV003935104

NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)

SNV
Germline

Chr8:89953378

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA287907

rs_587780090

5 SubmittersRCV000115783 RCV000216588 RCV000685440

NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)

SNV
Germline

Chr8:89953369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA160969

rs_142334798

18 SubmittersRCV000115784 RCV000121614 RCV000123208 RCV000587365 RCV001354070

NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)

SNV
Germline

Chr8:89953312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287910

rs_146989944

10 SubmittersRCV000115785 RCV000212750 RCV000656929 RCV000988083 RCV003891614

NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)

SNV
Germline

Chr8:89946211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Aplastic anemia
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287913

rs_587780091

13 SubmittersRCV000115786 RCV000212753 RCV000230585 RCV000515337 RCV001328956 RCV001778709 RCV003915124

NM_002485.5(NBN):c.254A>G (p.Asn85Ser)

SNV
Germline

Chr8:89981441

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA287928

rs_587780095

7 SubmittersRCV000115791 RCV000214236 RCV000231493

NM_002485.5(NBN):c.283G>A (p.Asp95Asn)

SNV
Germline

Chr8:89981412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160975

rs_61753720

23 SubmittersRCV000115792 RCV000121616 RCV000123216 RCV000588621

NM_002485.5(NBN):c.425A>G (p.Asn142Ser)

SNV
Germline

Chr8:89980789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Condition: not provided
Malignant tumor of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA160978

rs_769414

14 SubmittersRCV000115794 RCV000121617 RCV000168260 RCV000515292 RCV000589414 RCV001355243 RCV003492491

NM_002485.5(NBN):c.456G>A (p.Met152Ile)

SNV
Germline

Chr8:89980758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
not specified
Malignant tumor of breast
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA287934

rs_201816949

18 SubmittersRCV000115795 RCV000197783 RCV000509203 RCV000515395 RCV000781635 RCV001356300 RCV003467061

NM_002485.5(NBN):c.505C>T (p.Arg169Cys)

SNV
Germline

Chr8:89978299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Hereditary breast ovarian cancer syndrome
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287937

rs_182756889

13 SubmittersRCV000115796 RCV000123218 RCV000587269 RCV000764786 RCV001030567 RCV001549273 RCV003389690

NM_002485.5(NBN):c.595C>T (p.Pro199Ser)

SNV
Germline

Chr8:89971280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA287940

rs_587780097

10 SubmittersRCV000115798 RCV000235189 RCV000461206 RCV000515203

NM_002485.5(NBN):c.758C>T (p.Thr253Ile)

SNV
Germline

Chr8:89970502

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA160999

rs_61754967

13 SubmittersRCV000115805 RCV000121624 RCV000168183 RCV000656925 RCV003952554

NM_002485.5(NBN):c.788T>C (p.Phe263Ser)

SNV
Germline

Chr8:89970472

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Hereditary cancer
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287950

rs_147626427

10 SubmittersRCV000115806 RCV000199794 RCV000212737 RCV000656926 RCV003492492 RCV004745190

NM_002485.5(NBN):c.321-2A>G

SNV
Germline

Chr8:89980895

Likely pathogenic

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA156443

rs_587777931

3 SubmittersRCV000119854 RCV002514610 RCV003162555

NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)

SNV
Germline

Chr8:89953684

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome
NBN-related disorder
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA160966

rs_148205441

13 SubmittersRCV000121613 RCV000129788 RCV000167890 RCV000588734 RCV002225383 RCV003389699 RCV003474728

NM_002485.5(NBN):c.104T>C (p.Ile35Thr)

SNV
Germline

Chr8:89982789

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA332807

rs_587780773

11 SubmittersRCV000123202 RCV000221417 RCV000484131 RCV001264517 RCV003467093

NM_002485.5(NBN):c.38-10T>A

SNV
Germline

Chr8:89982865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA292412

rs_556807466

10 SubmittersRCV000127085 RCV000200594 RCV000733762 RCV002225409

NM_002485.5(NBN):c.1124+6G>T

SNV
Germline

Chr8:89958719

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA292413

rs_375862750

12 SubmittersRCV000127086 RCV000199990 RCV000581770 RCV000587851 RCV001354937

NM_002485.5(NBN):c.1914+10G>A

SNV
Germline

Chr8:89947814

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA205304

rs_577706448

13 SubmittersRCV000192466 RCV000232925 RCV000581136 RCV000679456 RCV001357262

NM_002485.5(NBN):c.481-18A>G

SNV
Germline

Chr8:89978341

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA292414

rs_587781092

3 SubmittersRCV000127092 RCV002055696 RCV004017414

NM_002485.5(NBN):c.1125-3C>T

SNV
Germline

Chr8:89955558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA163760

rs_587781326

5 SubmittersRCV000129069 RCV000361912 RCV001719900

NM_002485.5(NBN):c.172-3C>T

SNV
Germline

Chr8:89981526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA164959

rs_587781620

5 SubmittersRCV000129710 RCV000330677 RCV000832940

NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)

SNV
Germline

Chr8:89947826

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA164965

rs_199657566

14 SubmittersRCV000229344 RCV000129714 RCV000214531 RCV001193652 RCV001354210

NM_002485.5(NBN):c.73G>A (p.Val25Ile)

SNV
Germline

Chr8:89982820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294139

rs_587781748

8 SubmittersRCV000129954 RCV000212726 RCV000232974 RCV000656923

NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)

SNV
Germline

Chr8:89953360

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA165950

rs_587781881

9 SubmittersRCV000130210 RCV000199051 RCV000499428 RCV000589088 RCV003474761

NM_002485.5(NBN):c.1124+5A>T

SNV
Germline

Chr8:89958720

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA166777

rs_587782108

5 SubmittersRCV000130624 RCV000608438 RCV000672993

NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)

SNV
Germline

Chr8:89953615

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA166874

rs_587782130

5 SubmittersRCV000130673 RCV000480769 RCV000529643 RCV003467153

NM_002485.5(NBN):c.-2C>A

SNV
Germline

Chr8:89984563

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA167158

rs_202104448

7 SubmittersRCV000130810 RCV000422154 RCV001284195 RCV001800437

NM_002485.5(NBN):c.171+4T>C

SNV
Germline

Chr8:89982718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA167713

rs_587782290

10 SubmittersRCV000131170 RCV000205676 RCV000590607

NM_002485.5(NBN):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr8:89982766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA167743

rs_200287925

13 SubmittersRCV000131193 RCV003467167 RCV000409406 RCV000489509 RCV003162586

NM_002485.5(NBN):c.278C>T (p.Ser93Leu)

SNV
Germline

Chr8:89981417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206703

rs_12721593

12 SubmittersRCV000131226 RCV000193311 RCV000168344 RCV001354986 RCV000586867

NM_002485.5(NBN):c.1591A>G (p.Ile531Val)

SNV
Germline

Chr8:89953498

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA167864

rs_587782330

7 SubmittersRCV000131247 RCV000542468 RCV001357760 RCV001778752

NM_002485.5(NBN):c.584+3A>G

SNV
Germline

Chr8:89978217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168167

rs_587782407

5 SubmittersRCV000131444 RCV000636786 RCV003225031

NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)

SNV
Germline

Chr8:89955326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary cancer
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
not specified
NBN-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA294382

rs_141137543

16 SubmittersRCV000131458 RCV003492622 RCV000735122 RCV000199946 RCV000212747 RCV003905237 RCV002225444

NM_002485.5(NBN):c.949A>G (p.Met317Val)

SNV
Germline

Chr8:89964455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168521

rs_587782502

5 SubmittersRCV000131642 RCV000477065 RCV000485286

NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)

SNV
Germline

Chr8:89947835

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA168703

rs_587782545

12 SubmittersRCV000131755 RCV000219708 RCV000227700 RCV000763606 RCV003467185

NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)

SNV
Germline

Chr8:89943297

Pathogenic/Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA299657

rs_730881864

15 SubmittersRCV000160804 RCV000204431 RCV000215628 RCV000515171 RCV003467267

NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)

SNV
Germline

Chr8:89943320

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Aplastic anemia
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA299633

rs_730881857

10 SubmittersRCV000160795 RCV000212754 RCV000409031 RCV001535781 RCV003467263 RCV003407597

NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)

SNV
Germline

Chr8:89946181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
not specified

Criteria Provided
Conflicting Classifications

CA299630

rs_730881856

9 SubmittersRCV000160794 RCV000205938 RCV000235191 RCV001788054 RCV003317109

NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)

SNV
Germline

Chr8:89953388

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA299621

rs_730881853

4 SubmittersRCV000160791 RCV000771478 RCV001800471

NM_002485.5(NBN):c.1397+2T>A

SNV
Germline

Chr8:89955281

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA299614

rs_730881850

3 SubmittersRCV000160788 RCV000459098 RCV003467262

NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)

SNV
Germline

Chr8:89955337

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
Aplastic anemia
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA239214

rs_146403088

12 SubmittersRCV000160787 RCV000200818 RCV000656928 RCV001264572 RCV003474834 RCV004745222

NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)

SNV
Germline

Chr8:89955425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA299611

rs_730881849

4 SubmittersRCV000160786 RCV000212744 RCV001304232

NM_002485.5(NBN):c.1089C>T (p.Tyr363=)

SNV
Germline

Chr8:89958760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA248080

rs_121908974

12 SubmittersRCV000160770 RCV000212742 RCV000724700 RCV001079308

NM_002485.5(NBN):c.596C>G (p.Pro199Arg)

SNV
Germline

Chr8:89971279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA299593

rs_730881844

13 SubmittersRCV000160780 RCV000205060 RCV000726896 RCV002229765 RCV003474833

NM_002485.5(NBN):c.468A>C (p.Lys156Asn)

SNV
Germline

Chr8:89980746

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA299636

rs_730881858

9 SubmittersRCV000160796 RCV000222254 RCV000456204 RCV000781643

NM_002485.5(NBN):c.289A>G (p.Ile97Val)

SNV
Germline

Chr8:89981406

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299627

rs_730881855

4 SubmittersRCV000160793 RCV000636730 RCV002433715

NM_002485.5(NBN):c.16C>T (p.Pro6Ser)

SNV
Germline

Chr8:89984546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
not specified

Criteria Provided
Conflicting Classifications

CA299642

rs_730881859

8 SubmittersRCV000160798 RCV000197183 RCV000212724 RCV003467264 RCV004700496

NM_002485.5(NBN):c.-26G>A

SNV
Germline

Chr8:89984587

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299592

rs_201392451

5 SubmittersRCV000160779 RCV000352846 RCV003482133

NM_002485.5(NBN):c.286G>A (p.Gly96Ser)

SNV
Germline

Chr8:89981409

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA333815

rs_730882133

4 SubmittersRCV000161942 RCV000574837 RCV002478492

NM_002485.5(NBN):c.2234+2T>G

SNV
Germline

Chr8:89937024

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA190813

rs_142301194

6 SubmittersRCV000164379 RCV000508046 RCV000636785 RCV003474858

NM_002485.5(NBN):c.2071-1G>C

SNV
Germline

Chr8:89943367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA191166

rs_786201965

8 SubmittersRCV000164521 RCV000409665 RCV000483747 RCV003474861

NM_002485.5(NBN):c.2070+2T>G

SNV
Germline

Chr8:89946138

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA195879

rs_786203223

3 SubmittersRCV000166440 RCV000759171 RCV001378392

NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)

SNV
Germline

Chr8:89946154

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA198303

rs_786203920

2 SubmittersRCV000167435 RCV002516520

NM_002485.5(NBN):c.1989G>A (p.Val663=)

SNV
Germline

Chr8:89946221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA186793

rs_757753217

5 SubmittersRCV000162717 RCV000931948 RCV001503777 RCV003937483

NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)

SNV
Germline

Chr8:89953273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA195896

rs_774324419

5 SubmittersRCV000166446 RCV000586042 RCV000636773

NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)

SNV
Germline

Chr8:89953280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA191232

rs_192236678

11 SubmittersRCV000164543 RCV000424535 RCV000589243 RCV001030565 RCV001081367 RCV001357000

NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)

SNV
Germline

Chr8:89953366

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA190280

rs_786201745

5 SubmittersRCV000164194 RCV000456402 RCV003462127

NM_002485.5(NBN):c.1465C>G (p.Leu489Val)

SNV
Germline

Chr8:89953624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA190135

rs_143948240

8 SubmittersRCV000164141 RCV000197233 RCV001354892 RCV003467286

NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)

SNV
Germline

Chr8:89955398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA192382

rs_786202302

9 SubmittersRCV000165044 RCV000476294 RCV000588529 RCV001788056

NM_002485.5(NBN):c.1248G>T (p.Met416Ile)

SNV
Germline

Chr8:89955432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA191930

rs_756572268

5 SubmittersRCV000164855 RCV000534913 RCV001582649 RCV003468723

NM_002485.5(NBN):c.1204A>G (p.Thr402Ala)

SNV
Germline

Chr8:89955476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA197574

rs_201373377

3 SubmittersRCV000167134 RCV000686355

NM_002485.5(NBN):c.786C>A (p.Phe262Leu)

SNV
Germline

Chr8:89970474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Aplastic anemia
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA192297

rs_372159380

10 SubmittersRCV000165014 RCV003462161 RCV000214639 RCV000473725 RCV001264536

NM_002485.5(NBN):c.415A>G (p.Thr139Ala)

SNV
Germline

Chr8:89980799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA193554

rs_543852763

7 SubmittersRCV000165497 RCV000168457 RCV001706081 RCV002225484

NM_002485.5(NBN):c.266G>C (p.Arg89Pro)

SNV
Germline

Chr8:89981429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Malignant tumor of breast
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA189935

rs_747315554

10 SubmittersRCV000164059 RCV000473711 RCV000483231 RCV001354099 RCV004745239

NM_002485.5(NBN):c.235A>G (p.Asn79Asp)

SNV
Germline

Chr8:89981460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA194070

rs_786202749

4 SubmittersRCV000165721 RCV000812346 RCV003153447

NM_002485.5(NBN):c.120G>T (p.Ser40=)

SNV
Germline

Chr8:89982773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA189008

rs_774989816

9 SubmittersRCV000163710 RCV000733019 RCV000988090 RCV003975231

NM_002485.5(NBN):c.37+1G>A

SNV
Germline

Chr8:89984524

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA194448

rs_574673404

12 SubmittersRCV000165888 RCV000470841 RCV000708614 RCV001270989 RCV001310161 RCV003468760

NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)

SNV
Germline

Chr8:89943272

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA334459

rs_786204181

1 SubmittersRCV000168229

NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr8:89958819

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274767

rs_767215758

11 SubmittersRCV000170448 RCV000220210 RCV000446931 RCV000763607 RCV003474919

NM_002485.5(NBN):c.842T>G (p.Leu281Ter)

SNV
Germline

Chr8:89970418

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA334800

rs_786205135

8 SubmittersRCV000170447 RCV000772328 RCV003468849 RCV003398875

NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)

SNV
Germline

Chr8:89946231

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
NBN-related disorder
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA335799

rs_201781110

10 SubmittersRCV000195616 RCV000486313 RCV000566063 RCV001731429 RCV003407708 RCV004567439

NM_002485.5(NBN):c.854G>C (p.Cys285Ser)

SNV
Germline

Chr8:89970406

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336228

rs_863224715

3 SubmittersRCV000196198 RCV001017981

NM_002485.5(NBN):c.38-7A>G

SNV
Germline

Chr8:89982862

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337102

rs_863224392

4 SubmittersRCV000197294 RCV001705149

NM_002485.5(NBN):c.37+10G>C

SNV
Germline

Chr8:89984515

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA337883

rs_369408590

10 SubmittersRCV000198382 RCV000432416 RCV000580931 RCV000859143 RCV001356816

NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)

SNV
Germline

Chr8:89953342

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA350525

rs_864622143

7 SubmittersRCV000206506 RCV000217030 RCV001753608 RCV002478725 RCV003468931

NM_002485.5(NBN):c.897-2A>T

SNV
Germline

Chr8:89964509

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA348947

rs_864622090

9 SubmittersRCV000204744 RCV000222760 RCV001567181 RCV002057048 RCV003401102 RCV003474977

NM_002485.5(NBN):c.340G>T (p.Val114Phe)

SNV
Germline

Chr8:89980874

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA350859

rs_771034958

9 SubmittersRCV000206877 RCV000220601 RCV000486552 RCV000764790 RCV000767209 RCV003474978

NM_002485.5(NBN):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr8:89981429

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348406

rs_747315554

8 SubmittersRCV000204158 RCV000215544 RCV002466468

NM_002485.5(NBN):c.2071-1G>A

SNV
Germline

Chr8:89943367

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10577363

rs_786201965

6 SubmittersRCV000217514 RCV000222103 RCV000543979 RCV004567540

NM_002485.5(NBN):c.1398-10T>A

SNV
Germline

Chr8:89953701

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4802732

rs_539960851

7 SubmittersRCV000214666 RCV000463346 RCV001355059 RCV002225524 RCV004701297

NM_002485.5(NBN):c.666C>T (p.Phe222=)

SNV
Germline

Chr8:89971209

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA10577368

rs_876661098

6 SubmittersRCV000220946 RCV001183517 RCV001273693 RCV002509326

NM_002485.5(NBN):c.6G>A (p.Trp2Ter)

SNV
Germline

Chr8:89984556

Pathogenic/Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10577371

rs_876661130

2 SubmittersRCV000220864 RCV001854740

NM_002485.5(NBN):c.2184+1G>T

SNV
Germline

Chr8:89943252

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10578743

rs_756363734

9 SubmittersRCV000222999 RCV000411514 RCV000478822 RCV003469077

NM_002485.5(NBN):c.2073C>T (p.Val691=)

SNV
Germline

Chr8:89943364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA10578745

rs_876658178

3 SubmittersRCV000223586 RCV000636790 RCV003330586

NM_002485.5(NBN):c.2070+4G>A

SNV
Germline

Chr8:89946136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA10578746

rs_876660950

9 SubmittersRCV000216823 RCV000467512 RCV000842243 RCV002265696 RCV003929919

NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)

SNV
Germline

Chr8:89953293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802684

rs_775848374

5 SubmittersRCV000215909 RCV003153514 RCV000534730

NM_002485.5(NBN):c.1672A>G (p.Ile558Val)

SNV
Germline

Chr8:89953417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578755

rs_876659451

4 SubmittersRCV000216080 RCV000465308

NM_002485.5(NBN):c.1659G>A (p.Met553Ile)

SNV
Germline

Chr8:89953430

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10578756

rs_876659960

7 SubmittersRCV000213628 RCV000530341 RCV001658036 RCV001800566

NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)

SNV
Germline

Chr8:89953467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA10578757

rs_876658501

6 SubmittersRCV000216784 RCV000460642 RCV003468996

NM_002485.5(NBN):c.1454C>T (p.Thr485Met)

SNV
Germline

Chr8:89953635

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4802717

rs_200891292

7 SubmittersRCV000218203 RCV000473153 RCV001284189 RCV001800560

NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)

SNV
Germline

Chr8:89953672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA4802721

rs_755805461

6 SubmittersRCV000213681 RCV000463881 RCV000484796 RCV003475035

NM_002485.5(NBN):c.1397+3C>G

SNV
Germline

Chr8:89955280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578766

rs_876660481

5 SubmittersRCV000216247 RCV000636797

NM_002485.5(NBN):c.1315A>G (p.Ile439Val)

SNV
Germline

Chr8:89955365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA4802766

rs_752837508

5 SubmittersRCV000214707 RCV000229100 RCV004586635

NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr8:89955482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802781

rs_551602980

3 SubmittersRCV000217029 RCV000988085 RCV002478803

NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)

SNV
Germline

Chr8:89955520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802785

rs_747632184

5 SubmittersRCV000215651 RCV000699656 RCV003477740

NM_002485.5(NBN):c.1152C>G (p.Ile384Met)

SNV
Germline

Chr8:89955528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578769

rs_551802153

4 SubmittersRCV000218105 RCV001067296

NM_002485.5(NBN):c.995-2A>G

SNV
Germline

Chr8:89958856

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10578779

rs_876659521

7 SubmittersRCV000223218 RCV000231563 RCV000481197 RCV003475021 RCV003407753

NM_002485.5(NBN):c.977A>G (p.Gln326Arg)

SNV
Germline

Chr8:89964427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578781

rs_876659586

2 SubmittersRCV000217834 RCV001853581

NM_002485.5(NBN):c.703-3T>C

SNV
Germline

Chr8:89970560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578794

rs_876659566

4 SubmittersRCV000216120 RCV000615655 RCV000809078

NM_002485.5(NBN):c.394A>G (p.Ile132Val)

SNV
Germline

Chr8:89980820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802987

rs_756946899

3 SubmittersRCV000223570 RCV000636732

NM_002485.5(NBN):c.109A>G (p.Asn37Asp)

SNV
Germline

Chr8:89982784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578814

rs_876658411

3 SubmittersRCV000217641 RCV000469351

NM_002485.5(NBN):c.105T>G (p.Ile35Met)

SNV
Germline

Chr8:89982788

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA4803056

rs_78870221

6 SubmittersRCV000216738 RCV000533679 RCV001570359 RCV003475034

NM_002485.5(NBN):c.38-5C>T

SNV
Germline

Chr8:89982860

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4803067

rs_775244752

5 SubmittersRCV000221618 RCV000439470 RCV001496026

NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)

SNV
Germline

Chr8:89946195

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802630

rs_6413508

5 SubmittersRCV000234509 RCV000568348 RCV000788461

NM_002485.5(NBN):c.1738G>A (p.Val580Ile)

SNV
Germline

Chr8:89953351

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582596

rs_878854506

3 SubmittersRCV000232061 RCV004020790

NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)

SNV
Germline

Chr8:89958826

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA4802815

rs_756023239

10 SubmittersRCV000230649 RCV000446226 RCV001818596 RCV001770195 RCV003469157

NM_002485.5(NBN):c.769G>A (p.Glu257Lys)

SNV
Germline

Chr8:89970491

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582602

rs_878854516

2 SubmittersRCV000227599 RCV004020791

NM_002485.5(NBN):c.37+7G>A

SNV
Germline

Chr8:89984518

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4803095

rs_372850559

4 SubmittersRCV000226027 RCV000583671 RCV003479072

NM_002485.5(NBN):c.37+6G>C

SNV
Germline

Chr8:89984519

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4803097

rs_540868733

7 SubmittersRCV000231974 RCV000590289 RCV004017531

NM_002485.5(NBN):c.34G>A (p.Gly12Arg)

SNV
Germline

Chr8:89984528

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA10582607

rs_878854511

6 SubmittersRCV000228075 RCV000762529 RCV000772147 RCV003475060

NM_002485.5(NBN):c.432A>G (p.Thr144=)

SNV
Germline

Chr8:89980782

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10604979

rs_886043003

4 SubmittersRCV000394577 RCV001022303 RCV001436992

NM_002485.5(NBN):c.*987T>G

SNV
Germline

Chr8:89934595

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628378

rs_78935210

2 SubmittersRCV000313620 RCV003422362

NM_002485.5(NBN):c.1383G>A (p.Pro461=)

SNV
Germline

Chr8:89955297

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10631749

rs_886063169

5 SubmittersRCV000357753 RCV000431381 RCV000566911

NM_002485.5(NBN):c.2185-1G>A

SNV
Germline

Chr8:89937076

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041200

rs_1057517262

6 SubmittersRCV000409942 RCV001014719 RCV003470351

NM_002485.5(NBN):c.1846-1G>A

SNV
Germline

Chr8:89947893

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Gastric cancer
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA16041206

rs_61753717

5 SubmittersRCV000411891 RCV000572719 RCV003168596 RCV004567888

NM_002485.5(NBN):c.1125-1G>A

SNV
Unknown

Chr8:89955556

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA16041208

rs_1057517102

1 SubmittersRCV000412152

NM_002485.5(NBN):c.1124+1G>A

SNV
Germline

Chr8:89958724

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16041209

rs_1057517209

2 SubmittersRCV000410092

NM_002485.5(NBN):c.702+1G>A

SNV
Germline

Chr8:89971172

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16041210

rs_1057517104

4 SubmittersRCV000411476 RCV002365446 RCV003168594

NM_002485.5(NBN):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr8:89981430

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Acute lymphoid leukemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Gastric cancer
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041212

rs_1057516320

9 SubmittersRCV000410234 RCV001176293 RCV001782863 RCV002504201 RCV003168586 RCV003470325

NM_002485.5(NBN):c.171+1G>A

SNV
Germline

Chr8:89982721

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041215

rs_931715719

8 SubmittersRCV000409002 RCV000759169 RCV001012839 RCV003475941

NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)

SNV
Germline

Chr8:89955555

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA16044374

rs_1057519588

2 SubmittersRCV000417077

NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)

SNV
Germline

Chr8:89980884

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Single Submitter

CA16044376

rs_1057519585

2 SubmittersRCV000417080 RCV003138000

NM_002485.5(NBN):c.24G>A (p.Ala8=)

SNV
Germline

Chr8:89984538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4803103

rs_779543740

5 SubmittersRCV000570467 RCV001064416 RCV001704270

NM_002485.5(NBN):c.1397+4T>C

SNV
Germline

Chr8:89955279

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802756

rs_770699381

4 SubmittersRCV000418813 RCV001011354 RCV001307656

NM_002485.5(NBN):c.321-17C>G

SNV
Germline

Chr8:89980910

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4803000

rs_763878712

4 SubmittersRCV000434657 RCV000679463 RCV001800667

NM_002485.5(NBN):c.37+3A>G

SNV
Germline

Chr8:89984522

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA4803098

rs_764356392

5 SubmittersRCV000432255 RCV000473199 RCV000582301 RCV003942385

NM_002485.5(NBN):c.584+9T>C

SNV
Germline

Chr8:89978211

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802943

rs_746913991

6 SubmittersRCV000443854 RCV000459632 RCV001083819

NM_002485.5(NBN):c.798G>A (p.Pro266=)

SNV
Germline

Chr8:89970462

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802884

rs_368786672

6 SubmittersRCV000418518 RCV000459383 RCV000566951 RCV001357322 RCV002473004

NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)

SNV
Germline

Chr8:89953536

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA16612360

rs_1060503480

1 SubmittersRCV000473949

NM_002485.5(NBN):c.37+6G>A

SNV
Germline

Chr8:89984519

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4803096

rs_540868733

7 SubmittersRCV000457854 RCV001721502 RCV001821292

NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)

SNV
Germline

Chr8:89953246

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Aplastic anemia
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA4802679

rs_746632073

8 SubmittersRCV000471606 RCV000483350 RCV000569351 RCV001290536 RCV003476116 RCV004745405

NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)

SNV
Germline

Chr8:89953335

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified
Acute lymphoid leukemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802685

rs_763926389

9 SubmittersRCV000461649 RCV000567576 RCV000679454 RCV001358087 RCV002282161 RCV002475888

NM_002485.5(NBN):c.896+7A>G

SNV
Germline

Chr8:89970357

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612494

rs_1060504926

2 SubmittersRCV000469470 RCV003478043

NM_002485.5(NBN):c.383T>G (p.Leu128Ter)

SNV
Germline

Chr8:89980831

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612505

rs_1060503463

2 SubmittersRCV000467395 RCV002365663

NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)

SNV
Germline

Chr8:89955406

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612541

rs_1060503478

4 SubmittersRCV000463281 RCV000565324 RCV002279233

NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)

SNV
Germline

Chr8:89955503

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612543

rs_941732827

7 SubmittersRCV000468237 RCV000570523 RCV001194317 RCV001800687

NM_002485.5(NBN):c.396A>G (p.Ile132Met)

SNV
Germline

Chr8:89980818

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612674

rs_1060503462

4 SubmittersRCV000460586 RCV001021549 RCV001800688

NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)

SNV
Germline

Chr8:89943276

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16618697

rs_1064795816

5 SubmittersRCV000486706 RCV000573618 RCV001383121 RCV003470579

NM_002485.5(NBN):c.1891C>G (p.Leu631Val)

SNV
Germline

Chr8:89947847

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA16618699

rs_1064793477

4 SubmittersRCV000486410 RCV001013475 RCV001309682

NM_002485.5(NBN):c.1842A>G (p.Ile614Met)

SNV
Germline

Chr8:89953247

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802680

rs_770345026

7 SubmittersRCV000483770 RCV000567792 RCV000551607 RCV000985869

NM_002485.5(NBN):c.1594G>A (p.Val532Met)

SNV
Germline

Chr8:89953495

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802701

rs_545435120

5 SubmittersRCV000484172 RCV000550537 RCV001012314

NM_002485.5(NBN):c.1398-17T>G

SNV
Germline

Chr8:89953708

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802735

rs_561077201

2 SubmittersRCV000480010 RCV002063747

NM_002485.5(NBN):c.1063A>G (p.Ser355Gly)

SNV
Germline

Chr8:89958786

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802810

rs_762376159

5 SubmittersRCV000484152 RCV000527248 RCV001009794

NM_002485.5(NBN):c.702+1G>T

SNV
Germline

Chr8:89971172

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16618704

rs_1057517104

2 SubmittersRCV000481637 RCV001203346

NM_002485.5(NBN):c.481-2A>G

SNV
Germline

Chr8:89978325

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16618708

rs_751567476

3 SubmittersRCV000483114 RCV001184207 RCV002525921

NM_002485.5(NBN):c.2T>C (p.Met1Thr)

SNV
Germline

Chr8:89984560

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4803109

rs_746422391

4 SubmittersRCV000484157 RCV000695139 RCV001184071

NM_002485.5(NBN):c.2234+9T>G

SNV
Germline

Chr8:89937017

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA583377701

rs_1446505128

2 SubmittersRCV000506398 RCV000926687

NM_002485.5(NBN):c.702+9G>A

SNV
Germline

Chr8:89971164

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA4802910

rs_748373099

8 SubmittersRCV000506857 RCV000581237 RCV000679467 RCV001085475 RCV001355731

NM_002485.5(NBN):c.207A>G (p.Lys69=)

SNV
Germline

Chr8:89981488

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4803020

rs_754352569

5 SubmittersRCV000507040 RCV000808156 RCV004023420

NM_002485.5(NBN):c.481-2A>T

SNV
Germline

Chr8:89978325

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA4802955

rs_751567476

9 SubmittersRCV000523496 RCV000569604 RCV000707500 RCV002497023 RCV003470656

NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr8:89937066

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371674821

rs_1554554265

2 SubmittersRCV000552881 RCV002431579

NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)

SNV
Germline

Chr8:89943354

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675852

rs_1554555835

1 SubmittersRCV000556515

NM_002485.5(NBN):c.1915-5T>G

SNV
Germline

Chr8:89946300

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA658657785

rs_1554556608

3 SubmittersRCV000547745 RCV001800748 RCV003470736

NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)

SNV
Germline

Chr8:89955298

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
NBN-related disorder
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA4802760

rs_367760321

11 SubmittersRCV000539528 RCV000567288 RCV001591216 RCV001821527 RCV003419937 RCV003476251

NM_002485.5(NBN):c.1255A>C (p.Asn419His)

SNV
Germline

Chr8:89955425

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802771

rs_730881849

3 SubmittersRCV000559800 RCV001010572

NM_002485.5(NBN):c.995-1G>C

SNV
Germline

Chr8:89958855

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656826

rs_1554560523

1 SubmittersRCV000554271

NM_002485.5(NBN):c.1900G>A (p.Ala634Thr)

SNV
Germline

Chr8:89947838

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371677210

rs_1554556892

2 SubmittersRCV000534847 RCV004943964

NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)

SNV
Germline

Chr8:89953531

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181257926

rs_944499155

3 SubmittersRCV000536553 RCV000573249

NM_002485.5(NBN):c.1170A>G (p.Glu390=)

SNV
Germline

Chr8:89955510

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA462115050

rs_1554559326

3 SubmittersRCV000541197 RCV000582045 RCV001417903

NM_002485.5(NBN):c.994+5T>C

SNV
Germline

Chr8:89964405

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802840

rs_778254433

3 SubmittersRCV000546426 RCV000574546

NM_002485.5(NBN):c.935T>A (p.Leu312Ter)

SNV
Germline

Chr8:89964469

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371657029

rs_371480039

3 SubmittersRCV000544042

NM_002485.5(NBN):c.45A>C (p.Pro15=)

SNV
Germline

Chr8:89982848

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461831586

rs_577332041

2 SubmittersRCV001438018 RCV004023856

NM_002485.5(NBN):c.994+1G>T

SNV
Germline

Chr8:89964409

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371656834

rs_1554562083

5 SubmittersRCV000553121 RCV000755042 RCV003328595 RCV003459221

NM_002485.5(NBN):c.804G>T (p.Thr268=)

SNV
Germline

Chr8:89970456

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461830826

rs_141443872

4 SubmittersRCV000544774 RCV001328442 RCV002413489

NM_002485.5(NBN):c.64G>T (p.Val22Phe)

SNV
Germline

Chr8:89982829

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371663582

rs_369910645

2 SubmittersRCV000540870 RCV004943965

NM_002485.5(NBN):c.702+1G>C

SNV
Germline

Chr8:89971172

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371658914

rs_1057517104

3 SubmittersRCV000542087 RCV002367818

NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)

SNV
Germline

Chr8:89935609

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA4802562

rs_751570713

6 SubmittersRCV000564630 RCV000578737 RCV000698449 RCV004569120

NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr8:89946169

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371676380

rs_1554556485

2 SubmittersRCV000567898 RCV001858377

NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)

SNV
Germline

Chr8:89953390

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371655291

rs_1554558312

3 SubmittersRCV000563554 RCV000796112

NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)

SNV
Germline

Chr8:89943297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802601

rs_730881864

6 SubmittersRCV000575176 RCV000636782 RCV001584370

NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)

SNV
Germline

Chr8:89943309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371675559

rs_1554555808

3 SubmittersRCV000568915 RCV000704836

NM_002485.5(NBN):c.1410A>G (p.Glu470=)

SNV
Germline

Chr8:89953679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA462114864

rs_1554558592

4 SubmittersRCV000572616 RCV001764653 RCV001800780

NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)

SNV
Germline

Chr8:89953690

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371655931

rs_1554558613

5 SubmittersRCV000571949 RCV000801906 RCV001356206 RCV004569156

NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)

SNV
Germline

Chr8:89955401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia

Criteria Provided
Conflicting Classifications

CA371656207

rs_1554559171

4 SubmittersRCV000569911 RCV001054209 RCV002491138

NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr8:89955509

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371656435

rs_1554559323

4 SubmittersRCV000569344 RCV000694464 RCV001783067

NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)

SNV
Germline

Chr8:89955412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656233

rs_1444306607

3 SubmittersRCV000572328 RCV001041861

NM_002485.5(NBN):c.1124+1G>C

SNV
Germline

Chr8:89958724

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656555

rs_1057517209

2 SubmittersRCV000569288 RCV001853723

NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)

SNV
Germline

Chr8:89955448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802777

rs_551032019

4 SubmittersRCV000574288 RCV000694630 RCV000833202

NM_002485.5(NBN):c.2184+1G>A

SNV
Germline

Chr8:89943252

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA181273259

rs_756363734

2 SubmittersRCV000569113 RCV000822720

NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)

SNV
Germline

Chr8:89946217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371676482

rs_1554556544

3 SubmittersRCV000570062 RCV000684896

NM_002485.5(NBN):c.193G>A (p.Val65Ile)

SNV
Germline

Chr8:89981502

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA4803022

rs_778998026

4 SubmittersRCV000565097 RCV001039847 RCV003479166

NM_002485.5(NBN):c.315A>G (p.Lys105=)

SNV
Germline

Chr8:89981380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831423

rs_13312858

3 SubmittersRCV000567799 RCV000707282

NM_002485.5(NBN):c.27C>T (p.Gly9=)

SNV
Germline

Chr8:89984535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831602

rs_1554569662

4 SubmittersRCV000562307 RCV000611690 RCV000704342

NM_002485.5(NBN):c.1657A>G (p.Met553Val)

SNV
Germline

Chr8:89953432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802693

rs_746347634

6 SubmittersRCV000573104 RCV000636736 RCV000985868

NM_002485.5(NBN):c.36A>C (p.Gly12=)

SNV
Germline

Chr8:89984526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831594

rs_1554569658

3 SubmittersRCV000566109 RCV001235497

NM_002485.5(NBN):c.1395A>G (p.Lys465=)

SNV
Germline

Chr8:89955285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA462114815

rs_1213870507

2 SubmittersRCV000563286 RCV001449253

NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)

SNV
Germline

Chr8:89947868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA181275404

rs_962092255

6 SubmittersRCV000565273 RCV000687082 RCV003465269

NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)

SNV
Germline

Chr8:89953578

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802708

rs_757754183

4 SubmittersRCV000566537 RCV000815889

NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)

SNV
Germline

Chr8:89953587

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371655727

rs_1554558472

6 SubmittersRCV000568444 RCV000657733 RCV001005050 RCV001388337 RCV004569121

NM_002485.5(NBN):c.1312A>G (p.Ser438Gly)

SNV
Germline

Chr8:89955368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656141

rs_1456827107

3 SubmittersRCV000573699 RCV001063253

NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)

SNV
Germline

Chr8:89955533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656492

rs_772909239

3 SubmittersRCV000573508 RCV001341050

NM_002485.5(NBN):c.1125-4A>G

SNV
Germline

Chr8:89955559

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA658657802

rs_1554559375

3 SubmittersRCV000562845 RCV001400116

NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)

SNV
Germline

Chr8:89958725

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656558

rs_1394437421

2 SubmittersRCV000564232 RCV001858316

NM_002485.5(NBN):c.584+5A>G

SNV
Germline

Chr8:89978215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA583375382

rs_1309889719

3 SubmittersRCV000565579 RCV000636761

NM_002485.5(NBN):c.480A>G (p.Lys160=)

SNV
Germline

Chr8:89980734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831330

rs_1554567842

3 SubmittersRCV000567562 RCV000636809

NM_002485.5(NBN):c.320+1G>A

SNV
Germline

Chr8:89981374

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662236

rs_1364533250

2 SubmittersRCV000564864 RCV001276022

NM_002485.5(NBN):c.1915-8C>T

SNV
Germline

Chr8:89946303

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802640

rs_368132097

4 SubmittersRCV000579007 RCV000636792 RCV002257847

NM_002485.5(NBN):c.2070+1G>A

SNV
Germline

Chr8:89946139

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371676311

rs_1554556454

4 SubmittersRCV000580887 RCV000671660

NM_002485.5(NBN):c.171+3A>G

SNV
Germline

Chr8:89982719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA658683518

rs_1487002693

5 SubmittersRCV000580790 RCV001229330 RCV003459435

NM_002485.5(NBN):c.2235A>G (p.Arg745=)

SNV
Germline

Chr8:89935612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802563

rs_754865465

2 SubmittersRCV000581635 RCV001853930

NM_002485.5(NBN):c.7A>T (p.Lys3Ter)

SNV
Germline

Chr8:89984555

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4803108

rs_779098734

3 SubmittersRCV000581960 RCV000707330

NM_002485.5(NBN):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr8:89978239

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371660147

rs_1198614767

2 SubmittersRCV001853931 RCV003465314

NM_002485.5(NBN):c.-10A>T

SNV
Germline

Chr8:89984571

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA4803113

rs_759094270

5 SubmittersRCV000586130 RCV001800804 RCV003420019

NM_002485.5(NBN):c.37+8C>T

SNV
Germline

Chr8:89984517

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831591

rs_1554569655

3 SubmittersRCV000615842 RCV000636710

NM_002485.5(NBN):c.871C>T (p.Gln291Ter)

SNV
Germline

Chr8:89970389

Pathogenic/Likely pathogenic

Premature ovarian insufficiency
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371658288

rs_1554563822

3 SubmittersRCV000656225 RCV001387363 RCV004721470

NM_002485.5(NBN):c.832T>G (p.Ser278Ala)

SNV
Germline

Chr8:89970428

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA371658496

rs_1225178489

7 SubmittersRCV000589829 RCV000701071 RCV000772494 RCV001355653 RCV003492114

NM_002485.5(NBN):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr8:89981520

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371662638

rs_1554568427

6 SubmittersRCV000586448 RCV000688264 RCV001013002 RCV003471944 RCV003133388

NM_002485.5(NBN):c.584+6T>C

SNV
Germline

Chr8:89978214

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658797119

rs_1554566602

4 SubmittersRCV000612983 RCV000698403 RCV001284317

NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)

SNV
Germline

Chr8:89937072

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371674836

rs_1554554267

1 SubmittersRCV000636698

NM_002485.5(NBN):c.2071-2A>C

SNV
Germline

Chr8:89943368

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA4802608

rs_775397477

1 SubmittersRCV000636778

NM_002485.5(NBN):c.2022C>T (p.Gly674=)

SNV
Germline

Chr8:89946188

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461837692

rs_1554556503

3 SubmittersRCV000636771 RCV000773236

NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)

SNV
Germline

Chr8:89953374

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA371655253

rs_1554558303

6 SubmittersRCV000636718 RCV001525100 RCV002464275 RCV004568399

NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)

SNV
Germline

Chr8:89953339

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655176

rs_1554558270

1 SubmittersRCV000636737

NM_002485.5(NBN):c.1483C>T (p.Pro495Ser)

SNV
Germline

Chr8:89953606

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371655760

rs_747027298

2 SubmittersRCV000636740 RCV004025480

NM_002485.5(NBN):c.1124+2T>G

SNV
Germline

Chr8:89958723

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656551

rs_1554560352

1 SubmittersRCV000636717

NM_002485.5(NBN):c.818C>T (p.Thr273Ile)

SNV
Germline

Chr8:89970442

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371658541

rs_1554563912

4 SubmittersRCV000636779 RCV001525443

NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)

SNV
Unknown

Chr8:89935609

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_751570713

1 SubmittersRCV000670725

NM_002485.5(NBN):c.585-1G>A

SNV
Germline

Chr8:89971291

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1394578008

3 SubmittersRCV000666840 RCV001592845

NM_002485.5(NBN):c.2235-2A>G

SNV
Germline

Chr8:89935614

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_767094704

2 SubmittersRCV000669126 RCV003303097

NM_002485.5(NBN):c.995-2A>C

SNV
Germline

Chr8:89958856

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_876659521

3 SubmittersRCV000669315 RCV004026108

NM_002485.5(NBN):c.1622C>T (p.Ala541Val)

SNV
Germline

Chr8:89953467

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Conflicting Classifications

rs_876658501

3 SubmittersRCV000687714 RCV001805803 RCV003465562

NM_002485.5(NBN):c.646C>A (p.Gln216Lys)

SNV
Germline

Chr8:89971229

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_769416

3 SubmittersRCV000688542 RCV001025298

NM_002485.5(NBN):c.1670C>T (p.Ala557Val)

SNV
Germline

Chr8:89953419

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1286743873

2 SubmittersRCV000688543 RCV002397380

NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)

SNV
Germline

Chr8:89953683

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_780365310

5 SubmittersRCV000697437 RCV001176913

NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)

SNV
Germline

Chr8:89955400

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_778881191

3 SubmittersRCV000700776 RCV001805815

NM_002485.5(NBN):c.1153A>G (p.Lys385Glu)

SNV
Germline

Chr8:89955527

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1563532612

3 SubmittersRCV000704263 RCV003153818 RCV004649287

NM_002485.5(NBN):c.585-2A>G

SNV
Germline

Chr8:89971292

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_772005832

5 SubmittersRCV000700477 RCV002352187 RCV003465613 RCV004588139

NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)

SNV
Germline

Chr8:89981473

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1563581193

1 SubmittersRCV000696443

NM_002485.5(NBN):c.36A>T (p.Gly12=)

SNV
Germline

Chr8:89984526

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1554569658

3 SubmittersRCV000707509 RCV002343576

NM_002485.5(NBN):c.390A>G (p.Gln130=)

SNV
Germline

Chr8:89980824

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_146150499

6 SubmittersRCV001619837 RCV000768028 RCV000799906 RCV001021414 RCV002271580

NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)

SNV
Germline

Chr8:89953657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1199013619

4 SubmittersRCV000773787 RCV001067584

NM_002485.5(NBN):c.958A>G (p.Lys320Glu)

SNV
Germline

Chr8:89964446

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

rs_1563548624

3 SubmittersRCV000773117 RCV001800872 RCV002249473

NM_002485.5(NBN):c.786C>G (p.Phe262Leu)

SNV
Germline

Chr8:89970474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_372159380

3 SubmittersRCV000775829 RCV001302594

NM_002485.5(NBN):c.692A>G (p.Asn231Ser)

SNV
Germline

Chr8:89971183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1309274168

4 SubmittersRCV000773378 RCV000809097 RCV000999052

NM_002485.5(NBN):c.474C>T (p.Thr158=)

SNV
Germline

Chr8:89980740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1563578527

2 SubmittersRCV000774889 RCV001474735

NM_002485.5(NBN):c.297T>C (p.Phe99=)

SNV
Germline

Chr8:89981398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

rs_1563580668

4 SubmittersRCV000772238 RCV001413593 RCV002225725

NM_002485.5(NBN):c.896+1G>T

SNV
Germline

Chr8:89970363

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_778306619

1 SubmittersRCV001377438

NM_002485.5(NBN):c.896+1G>A

SNV
Germline

Chr8:89970363

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_778306619

3 SubmittersRCV001873158 RCV003465700 RCV003166060

NM_002485.5(NBN):c.38-2A>G

SNV
Germline

Chr8:89982857

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_771475965

4 SubmittersRCV000775396 RCV001067027 RCV003465698

NM_002485.5(NBN):c.702+8T>C

SNV
Germline

Chr8:89971165

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1563561325

3 SubmittersRCV000781637 RCV001491898

NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)

SNV
Germline

Chr8:89953396

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1586053399

1 SubmittersRCV000792089

NM_002485.5(NBN):c.1448T>G (p.Ile483Arg)

SNV
Germline

Chr8:89953641

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_876658347

2 SubmittersRCV000801918 RCV002388484

NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)

SNV
Germline

Chr8:89955353

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554559094

2 SubmittersRCV000799574 RCV003467379

NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)

SNV
Germline

Chr8:89955427

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554559212

2 SubmittersRCV000819368 RCV002415924

NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)

SNV
Germline

Chr8:89955436

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_764832388

3 SubmittersRCV000792228 RCV001010512

NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)

SNV
Germline

Chr8:89964438

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Breast carcinoma

Criteria Provided
Single Submitter

rs_748453607

2 SubmittersRCV000804176 RCV001564018

NM_002485.5(NBN):c.897G>A (p.Arg299=)

SNV
Germline

Chr8:89964507

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779798363

5 SubmittersRCV000816520 RCV001018584 RCV001564380

NM_002485.5(NBN):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr8:89981445

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1586108714

3 SubmittersRCV000804317 RCV003166237 RCV004028167

NM_002485.5(NBN):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr8:89981454

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1064795037

1 SubmittersRCV000794512

NM_002485.5(NBN):c.897-2A>G

SNV
Germline

Chr8:89964509

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_864622090

1 SubmittersRCV000793764

NM_002485.5(NBN):c.896+2T>C

SNV
Germline

Chr8:89970362

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Conflicting Classifications

rs_754659423

3 SubmittersRCV000815940 RCV002442734 RCV003467475

NM_002485.5(NBN):c.1845+2T>C

SNV
Germline

Chr8:89953242

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1586052622

1 SubmittersRCV000800755

NM_002485.5(NBN):c.2071-8T>C

SNV
Germline

Chr8:89943374

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1178683426

3 SubmittersRCV000875631 RCV004997445

NM_002485.5(NBN):c.270T>A (p.Thr90=)

SNV
Germline

Chr8:89981425

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776469548

3 SubmittersRCV000925079 RCV003169326 RCV003478581

NM_002485.5(NBN):c.1845+10A>G

SNV
Germline

Chr8:89953234

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

rs_570914185

4 SubmittersRCV000927165 RCV001401955 RCV001818889

NM_002485.5(NBN):c.897-5A>G

SNV
Germline

Chr8:89964512

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1586076321

2 SubmittersRCV000927067 RCV002445037

NM_002485.5(NBN):c.584+2T>C

SNV
Germline

Chr8:89978218

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1586101154

4 SubmittersRCV001004533 RCV001024591 RCV003467575

NM_002485.5(NBN):c.1248G>A (p.Met416Ile)

SNV
Germline

Chr8:89955432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_756572268

3 SubmittersRCV001010556 RCV002295316

NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)

SNV
Germline

Chr8:89958760

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_121908974

3 SubmittersRCV001009876 RCV001800916

NM_002485.5(NBN):c.800G>A (p.Gly267Glu)

SNV
Germline

Chr8:89970460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_747837246

3 SubmittersRCV001027059 RCV001066171

NM_002485.5(NBN):c.320G>A (p.Arg107Lys)

SNV
Germline

Chr8:89981375

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1345924774

3 SubmittersRCV001019241 RCV001228207

NM_002485.5(NBN):c.2234+1G>T

SNV
Germline

Chr8:89937025

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1586024147

2 SubmittersRCV001014894 RCV001236246

NM_002485.5(NBN):c.2071-4A>T

SNV
Germline

Chr8:89943370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_746994234

4 SubmittersRCV001014289 RCV001800923

NM_002485.5(NBN):c.897-1G>A

SNV
Germline

Chr8:89964508

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1586076299

2 SubmittersRCV001018577 RCV001873311

NM_002485.5(NBN):c.585-5T>A

SNV
Germline

Chr8:89971295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1586088968

2 SubmittersRCV001024605 RCV003617889

NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)

SNV
Germline

Chr8:89943264

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1810030774

1 SubmittersRCV001071287

NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)

SNV
Germline

Chr8:89953444

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1810540992

4 SubmittersRCV001060946 RCV001270950 RCV002402432 RCV003473674

NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)

SNV
Germline

Chr8:89953593

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_772411713

3 SubmittersRCV001057404 RCV003467785 RCV004031809

NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser)

SNV
Germline

Chr8:89955394

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_370121348

2 SubmittersRCV001051883 RCV004639446

NM_002485.5(NBN):c.604G>T (p.Glu202Ter)

SNV
Germline

Chr8:89971271

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1811506628

1 SubmittersRCV001067860

NM_002485.5(NBN):c.429G>A (p.Trp143Ter)

SNV
Germline

Chr8:89980785

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1812023981

3 SubmittersRCV001061415 RCV003462589

NM_002485.5(NBN):c.1846-1G>T

SNV
Germline

Chr8:89947893

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_61753717

1 SubmittersRCV001043646

NM_002485.5(NBN):c.2234+1G>A

SNV
Germline

Chr8:89937025

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1586024147

1 SubmittersRCV001062133

NM_002485.5(NBN):c.1886A>G (p.Asp629Gly)

SNV
Germline

Chr8:89947852

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1586043675

2 SubmittersRCV001162815 RCV004639487

NM_002485.5(NBN):c.567G>A (p.Gln189=)

SNV
Germline

Chr8:89978237

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1203807404

3 SubmittersRCV001161378

NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)

SNV
Germline

Chr8:89953437

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1586053587

3 SubmittersRCV001191742 RCV003469306 RCV001863040

NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)

SNV
Germline

Chr8:89953538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_876658744

3 SubmittersRCV001187829 RCV001323375

NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)

SNV
Germline

Chr8:89955460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1473253247

4 SubmittersRCV001178736 RCV001341643

NM_002485.5(NBN):c.115C>T (p.Gln39Ter)

SNV
Germline

Chr8:89982778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_377730553

2 SubmittersRCV001186594 RCV001862938

NM_002485.5(NBN):c.584+1G>A

SNV
Germline

Chr8:89978219

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1811862598

2 SubmittersRCV001185847 RCV001862922

NM_002485.5(NBN):c.2185-7T>G

SNV
Germline

Chr8:89937082

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1563497932

2 SubmittersRCV001428981

NM_002485.5(NBN):c.1846-13T>A

SNV
Germline

Chr8:89947905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1810272926

2 SubmittersRCV001186082 RCV003770074

NM_002485.5(NBN):c.1802A>G (p.Asp601Gly)

SNV
Germline

Chr8:89953287

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_553571469

2 SubmittersRCV001217851 RCV002411808

NM_002485.5(NBN):c.436G>T (p.Glu146Ter)

SNV
Germline

Chr8:89980778

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1812023357

2 SubmittersRCV001220913 RCV002327522

NM_002485.5(NBN):c.1845T>C (p.Ser615=)

SNV
Germline

Chr8:89953244

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1810519877

2 SubmittersRCV001206590 RCV002411760

NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)

SNV
Germline

Chr8:89953348

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1337679118

5 SubmittersRCV001204081 RCV003473744 RCV002411748

NM_002485.5(NBN):c.359T>G (p.Leu120Ter)

SNV
Germline

Chr8:89980855

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1563579387

3 SubmittersRCV001206069 RCV003346362 RCV003469334

NM_002485.5(NBN):c.322A>G (p.Ile108Val)

SNV
Germline

Chr8:89980892

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1286492027

2 SubmittersRCV001213378 RCV002322033

NM_002485.5(NBN):c.995-1G>T

SNV
Germline

Chr8:89958855

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1554560523

1 SubmittersRCV001214272

NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)

SNV
Germline

Chr8:89947889

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_766602873

2 SubmittersRCV001238488 RCV003478747

NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr8:89953573

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_876658535

2 SubmittersRCV001227877 RCV003294092

NM_002485.5(NBN):c.20C>T (p.Ala7Val)

SNV
Germline

Chr8:89984542

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_781057669

2 SubmittersRCV001236445 RCV002418811

NM_002485.5(NBN):c.1727T>C (p.Ile576Thr)

SNV
Germline

Chr8:89953362

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1255733657

2 SubmittersRCV001248747 RCV002402794

NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)

SNV
Germline

Chr8:89955287

Pathogenic

Breast and/or ovarian cancer
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1563530658

2 SubmittersRCV001270949 RCV003617920

NM_002485.5(NBN):c.5G>A (p.Trp2Ter)

SNV
Germline

Chr8:89984557

Pathogenic

Breast and/or ovarian cancer
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1812244679

2 SubmittersRCV001270990 RCV002537743

NM_002485.5(NBN):c.189C>T (p.Ile63=)

SNV
Germline

Chr8:89981506

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1554568383

4 SubmittersRCV001284191 RCV001524765 RCV001426679

NM_002485.5(NBN):c.584G>A (p.Ser195Asn)

SNV
Germline

Chr8:89978220

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1811862674

4 SubmittersRCV001310162 RCV001368080 RCV003478769

NM_002485.5(NBN):c.2184+2T>G

SNV
Germline

Chr8:89943251

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_75823099

2 SubmittersRCV001379405 RCV002432064

NM_002485.5(NBN):c.2184+2T>A

SNV
Germline

Chr8:89943251

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_75823099

1 SubmittersRCV001379478

NM_002485.5(NBN):c.2071-2A>G

SNV
Germline

Chr8:89943368

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_775397477

1 SubmittersRCV001378341

NM_002485.5(NBN):c.1914+2T>G

SNV
Germline

Chr8:89947822

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129659522

1 SubmittersRCV001377502

NM_002485.5(NBN):c.995G>A (p.Gly332Glu)

SNV
Germline

Chr8:89958854

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129747182

1 SubmittersRCV001377833

NM_002485.5(NBN):c.702+2T>C

SNV
Germline

Chr8:89971171

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1811497703

2 SubmittersRCV001377651 RCV003473905

NM_002485.5(NBN):c.702+2T>A

SNV
Germline

Chr8:89971171

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1811497703

1 SubmittersRCV001376929

NM_002485.5(NBN):c.172-1G>T

SNV
Germline

Chr8:89981524

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1391598284

1 SubmittersRCV001378799

NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)

SNV
Germline

Chr8:89943348

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1038132485

1 SubmittersRCV001387991

NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)

SNV
Germline

Chr8:89946217

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1554556544

1 SubmittersRCV001388858

NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)

SNV
Germline

Chr8:89953593

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_772411713

1 SubmittersRCV001387053

NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr8:89953672

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_755805461

3 SubmittersRCV001385912 RCV004945110

NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)

SNV
Germline

Chr8:89955488

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129721263

1 SubmittersRCV001390505

NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)

SNV
Germline

Chr8:89955490

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1554559308

1 SubmittersRCV001388920

NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)

SNV
Germline

Chr8:89958743

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Aplastic anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129744741

4 SubmittersRCV001386835 RCV002476731 RCV003469725 RCV004037684

NM_002485.5(NBN):c.580G>T (p.Glu194Ter)

SNV
Germline

Chr8:89978224

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554566610

4 SubmittersRCV001380565 RCV002357286 RCV003127859 RCV003469651

NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)

SNV
Germline

Chr8:89982845

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129926091

2 SubmittersRCV001385181 RCV003399206

NM_002485.5(NBN):c.481-7A>G

SNV
Germline

Chr8:89978330

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2129890380

2 SubmittersRCV001395703 RCV004998871

NM_002485.5(NBN):c.2071-6C>A

SNV
Germline

Chr8:89943372

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_768670249

2 SubmittersRCV001427677

NM_002485.5(NBN):c.790T>C (p.Leu264=)

SNV
Germline

Chr8:89970470

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2129829667

3 SubmittersRCV001438933 RCV002420990 RCV004783969

NM_002485.5(NBN):c.1332T>C (p.Asp444=)

SNV
Germline

Chr8:89955348

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1810653364

2 SubmittersRCV001454518 RCV004998907

NM_002485.5(NBN):c.1191A>G (p.Ser397=)

SNV
Germline

Chr8:89955489

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2129721280

3 SubmittersRCV001451978 RCV002342001 RCV003478839

NM_002485.5(NBN):c.995-5T>C

SNV
Germline

Chr8:89958859

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

rs_2129747292

2 SubmittersRCV001481456 RCV003994293

NM_002485.5(NBN):c.585-5T>C

SNV
Germline

Chr8:89971295

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1586088968

3 SubmittersRCV001505889 RCV001525104

NM_002485.5(NBN):c.217A>T (p.Lys73Ter)

SNV
Germline

Chr8:89981478

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129915767

2 SubmittersRCV002568061 RCV003470849

NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)

SNV
Germline

Chr8:89953597

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_915825113

3 SubmittersRCV001568147 RCV001832777 RCV004039356

NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)

SNV
Germline

Chr8:89955533

Pathogenic/Likely pathogenic

Ovarian carcinoma
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_772909239

3 SubmittersRCV001648486 RCV001873820 RCV003470874

NM_002485.5(NBN):c.481-5T>C

SNV
Germline

Chr8:89978328

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_2129890359

2 SubmittersRCV001772463 RCV002074009

NM_002485.5(NBN):c.839C>T (p.Thr280Ile)

SNV
Germline

Chr8:89970421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_2129828243

3 SubmittersRCV001763149 RCV002440854 RCV002540321

NM_002485.5(NBN):c.2260A>C (p.Arg754=)

SNV
Germline

Chr8:89935587

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_2130735641

2 SubmittersRCV001771302 RCV002540531

NM_002485.5(NBN):c.2070+1G>T

SNV
Germline

Chr8:89946139

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554556454

2 SubmittersRCV001753232 RCV003617939

NM_002485.5(NBN):c.2140C>A (p.Arg714=)

SNV
Germline

Chr8:89943297

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_730881864

3 SubmittersRCV001819270 RCV003507398 RCV004040971

NM_002485.5(NBN):c.1845+1G>A

SNV
Germline/somatic

Chr8:89953243

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129695663

3 SubmittersRCV001818104 RCV001885361 RCV002406900

NM_002485.5(NBN):c.994+2T>C

SNV
Germline

Chr8:89964408

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1586075690

2 SubmittersRCV002026037 RCV002386888

NM_002485.5(NBN):c.1599A>G (p.Lys533=)

SNV
Germline

Chr8:89953490

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2129700342

2 SubmittersRCV001944815 RCV002397806

NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)

SNV
Germline

Chr8:89946228

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1810183784

2 SubmittersRCV001897734 RCV004041330

NM_002485.5(NBN):c.298G>T (p.Gly100Ter)

SNV
Germline

Chr8:89981397

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129914287

2 SubmittersRCV001864972 RCV002440930

NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)

SNV
Germline

Chr8:89955512

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129721628

2 SubmittersRCV001960653 RCV003289305

NM_002485.5(NBN):c.171+1G>T

SNV
Germline

Chr8:89982721

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_931715719

1 SubmittersRCV002034356

NM_002485.5(NBN):c.171+1G>C

SNV
Germline

Chr8:89982721

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_931715719

1 SubmittersRCV002034449

NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)

SNV
Germline

Chr8:89953506

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129700612

1 SubmittersRCV001908318

NM_002485.5(NBN):c.994G>A (p.Gly332Arg)

SNV
Germline

Chr8:89964410

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1437392838

2 SubmittersRCV002019619 RCV003348737

NM_002485.5(NBN):c.278C>A (p.Ser93Ter)

SNV
Germline

Chr8:89981417

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_12721593

2 SubmittersRCV001884264 RCV003470998

NM_002485.5(NBN):c.172-2A>T

SNV
Germline

Chr8:89981525

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129916685

1 SubmittersRCV001961761

NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)

SNV
Germline

Chr8:89947849

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1810267412

3 SubmittersRCV001947519 RCV002406960 RCV004571457

NM_002485.5(NBN):c.481-2A>C

SNV
Germline

Chr8:89978325

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_751567476

1 SubmittersRCV001971340

NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)

SNV
Germline

Chr8:89964438

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_748453607

2 SubmittersRCV001994742 RCV003475215

NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)

SNV
Germline

Chr8:89958821

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1810856747

2 SubmittersRCV002002429 RCV002386816

NM_002485.5(NBN):c.1473A>G (p.Glu491=)

SNV
Germline

Chr8:89953616

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2129702949

2 SubmittersRCV001955418 RCV002388895

NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)

SNV
Germline

Chr8:89947843

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129659855

2 SubmittersRCV001999711 RCV002407175

NM_002485.5(NBN):c.172-1G>A

SNV
Germline

Chr8:89981524

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1391598284

1 SubmittersRCV002048065

NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)

SNV
Germline

Chr8:89955490

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554559308

2 SubmittersRCV001956253

NM_002485.5(NBN):c.2070+2T>A

SNV
Germline

Chr8:89946138

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_786203223

1 SubmittersRCV001996041

NM_002485.5(NBN):c.143T>G (p.Leu48Ter)

SNV
Germline

Chr8:89982750

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129924518

1 SubmittersRCV001959178

NM_002485.5(NBN):c.1398-2A>G

SNV
Germline

Chr8:89953693

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2129704501

1 SubmittersRCV002010366

NM_002485.5(NBN):c.742G>T (p.Glu248Ter)

SNV
Germline

Chr8:89970518

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_1811464271

1 SubmittersRCV001940815

NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)

SNV
Germline

Chr8:89953252

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554558199

3 SubmittersRCV001863317 RCV002406928 RCV004571430

NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)

SNV
Germline

Chr8:89946151

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

rs_2130763590

1 SubmittersRCV001996808

NM_002485.5(NBN):c.1125-11T>G

SNV
Germline

Chr8:89955566

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1373365760

2 SubmittersRCV002202436 RCV003234167

NM_002485.5(NBN):c.995-4A>G

SNV
Germline

Chr8:89958858

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2129747280

2 SubmittersRCV002113593 RCV004999654

NM_002485.5(NBN):c.2185-12T>G

SNV
Germline

Chr8:89937087

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_373516568

2 SubmittersRCV002099636 RCV002258359

NM_002485.5(NBN):c.1891C>T (p.Leu631=)

SNV
Germline

Chr8:89947847

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1064793477

2 SubmittersRCV002117124 RCV002409504

NM_002485.5(NBN):c.1125-12C>G

SNV
Germline

Chr8:89955567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_1810676263

2 SubmittersRCV002257309 RCV003774785

NM_002485.5(NBN):c.38-12A>G

SNV
Germline

Chr8:89982867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

rs_773524364

2 SubmittersRCV002257310 RCV003101427

NM_002485.5(NBN):c.769G>T (p.Glu257Ter)

SNV
Germline

Chr8:89970491

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306733 RCV003308128

NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)

SNV
Unknown

Chr8:89946163

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309821

NM_002485.5(NBN):c.307G>T (p.Gly103Ter)

SNV
Unknown

Chr8:89981388

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002307901

NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)

SNV
Unknown

Chr8:89955373

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002308118

NM_002485.5(NBN):c.313A>T (p.Lys105Ter)

SNV
Unknown

Chr8:89981382

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002310521

NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)

SNV
Unknown

Chr8:89953449

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002308431

NM_002485.5(NBN):c.480+2T>G

SNV
Germline

Chr8:89980732

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002337877 RCV003096473

NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)

SNV
Germline

Chr8:89955393

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002383218 RCV003094921 RCV004572399

NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)

SNV
Germline

Chr8:89943285

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003089653 RCV003161760

NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr8:89953609

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002797046

NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)

SNV
Germline

Chr8:89947842

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002875551 RCV003167840

NM_002485.5(NBN):c.1125-1G>C

SNV
Germline

Chr8:89955556

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002894487

NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)

SNV
Germline

Chr8:89953655

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002894701

NM_002485.5(NBN):c.855T>A (p.Cys285Ter)

SNV
Germline

Chr8:89970405

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003029514

NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)

SNV
Germline

Chr8:89953506

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003032194

NM_002485.5(NBN):c.1914+1G>T

SNV
Germline

Chr8:89947823

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003049650

NM_002485.5(NBN):c.1845+2T>G

SNV
Germline

Chr8:89953242

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003047186

NM_002485.5(NBN):c.2185-5G>A

SNV
Germline

Chr8:89937080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003172487 RCV003618055

NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)

SNV
Germline

Chr8:89953561

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003507483 RCV003172490

NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)

SNV
Germline

Chr8:89955458

Pathogenic/Likely pathogenic

Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003470300 RCV003618081

NM_002485.5(NBN):c.1397+1G>A

SNV
Germline

Chr8:89955282

Conflicting classifications of pathogenicity

Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003476516 RCV003618082 RCV004364787

NM_002485.5(NBN):c.2071-1G>T

SNV
Germline

Chr8:89943367

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003507550

NM_002485.5(NBN):c.321-1G>A

SNV
Germline

Chr8:89980894

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003508341

NM_002485.5(NBN):c.2071-2A>T

SNV
Germline

Chr8:89943368

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003507081

NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)

SNV
Germline

Chr8:89955306

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003507753

NM_002485.5(NBN):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr8:89971175

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003618236

NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)

SNV
Germline

Chr8:89955459

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003618281

NM_002485.5(NBN):c.584+1G>T

SNV
Germline

Chr8:89978219

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003618364

NM_002485.5(NBN):c.649G>T (p.Glu217Ter)

SNV
Germline

Chr8:89971226

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003618538

NM_002485.5(NBN):c.489T>A (p.Cys163Ter)

SNV
Germline

Chr8:89978315

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003618619

NM_002485.5(NBN):c.875C>G (p.Ser292Ter)

SNV
Germline

Chr8:89970385

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003618717