ClinVar Miner

Variants with conflicting interpretations studied for Microcephaly, normal intelligence and immunodeficiency

Coded as:
Minimum review status of the submission for Microcephaly, normal intelligence and immunodeficiency: Y axis collection method of the submission for Microcephaly, normal intelligence and immunodeficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
406 340 1 39 71 2 8 112

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Microcephaly, normal intelligence and immunodeficiency pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 23 1 1 1 1
likely pathogenic 19 0 3 0 0 0
uncertain significance 2 3 1 61 9 1
likely benign 1 0 14 0 11 0
benign 0 0 0 1 0 0

Condition to condition summary #

Total conditions: 12
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Hereditary cancer-predisposing syndrome 0 314 0 23 55 0 5 81
not provided 0 147 0 26 22 0 3 48
not specified 0 53 0 9 30 0 1 35
Microcephaly, normal intelligence and immunodeficiency 757 81 0 15 5 0 1 20
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 0 18 0 3 0 0 0 3
Hereditary breast and ovarian cancer syndrome 0 0 0 2 0 0 0 2
Acute lymphoid leukemia 0 1 0 1 0 0 0 1
Aplastic anemia 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 0 0 1 0 1
Familial cancer of breast 0 0 0 0 1 0 0 1
Leukemia, acute lymphoblastic, susceptibility to 0 0 0 0 0 1 0 1
Malignant tumor of prostate 0 1 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 112
Download table as spreadsheet
HGVS dbSNP
NM_001024688.2(NBN):c.-141_-140del rs767454740
NM_001024688.2(NBN):c.-158_-157GT[1] rs750375741
NM_001024688.2(NBN):c.-192_-162del rs730881840
NM_001024688.2(NBN):c.-209_-208del rs587781718
NM_001024688.2(NBN):c.-286del rs1064793210
NM_001024688.2(NBN):c.-35_-32del rs1064795634
NM_001024688.2(NBN):c.-37_-36del rs786202494
NM_001024688.2(NBN):c.-66_-65del rs768378152
NM_001024688.2(NBN):c.1728del (p.Glu576fs) rs1057516668
NM_001024688.2(NBN):c.411_415del (p.Lys137fs) rs587776650
NM_001024688.2(NBN):c.495_496dup (p.Glu166fs) rs864309670
NM_001024688.2(NBN):c.60del (p.Phe20fs) rs587781305
NM_001024688.2(NBN):c.896del (p.Pro299fs) rs587781969
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1125-3C>T rs587781326
NM_002485.4(NBN):c.1177T>C (p.Phe393Leu) rs941732827
NM_002485.4(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.4(NBN):c.1248G>T (p.Met416Ile) rs756572268
NM_002485.4(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1315A>G (p.Ile439Val) rs752837508
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1383G>A (p.Pro461=) rs886063169
NM_002485.4(NBN):c.1397+2T>A rs730881850
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1434C>T (p.Cys478=) rs1060503473
NM_002485.4(NBN):c.1454C>T (p.Thr485Met) rs200891292
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) rs587781557
NM_002485.4(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.1659G>A (p.Met553Ile) rs876659960
NM_002485.4(NBN):c.1684G>A (p.Val562Ile) rs754651655
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1716dup (p.Glu573fs) rs1060503483
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.175C>T (p.Gln59Ter) rs1554568427
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1911_1914+1del rs1554556880
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1915-8C>T rs368132097
NM_002485.4(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2015C>T (p.Pro672Leu) rs6413508
NM_002485.4(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) rs730881856
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2070+4G>A rs876660950
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2235-12C>T rs1554553904
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.4(NBN):c.254A>G (p.Asn85Ser) rs587780095
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.286G>A (p.Gly96Ser) rs730882133
NM_002485.4(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.4(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.4(NBN):c.320+6A>G rs757321173
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+2dup rs876658183
NM_002485.4(NBN):c.37+3A>G rs764356392
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.37+6G>C rs540868733
NM_002485.4(NBN):c.37+6G>T rs540868733
NM_002485.4(NBN):c.37+8C>T rs1554569655
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.394A>G (p.Ile132Val) rs756946899
NM_002485.4(NBN):c.415A>G (p.Thr139Ala) rs543852763
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.584+6T>C rs1554566602
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.64G>A (p.Val22Ile) rs369910645
NM_002485.4(NBN):c.703-3T>C rs876659566
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002485.4(NBN):c.798G>A (p.Pro266=) rs368786672
NM_002485.4(NBN):c.7A>T (p.Lys3Ter) rs779098734
NM_002485.4(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.4(NBN):c.949A>G (p.Met317Val) rs587782502

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