ClinVar Miner

Variants with conflicting interpretations studied for Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Coded as:
Minimum review status of the submission for Immunodeficiency-centromeric instability-facial anomalies syndrome 1: Collection method of the submission for Immunodeficiency-centromeric instability-facial anomalies syndrome 1:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
69 29 0 10 27 0 3 39

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
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 1 1 0 24 3
likely benign 0 0 0 0 5
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 0 29 0 9 27 0 3 39
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 126 7 0 3 0 0 1 4

All variants with conflicting interpretations #

Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_006892.4(DNMT3B):c.1996+9C>T rs143448185 0.00128
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile) rs145632647 0.00091
NM_006892.4(DNMT3B):c.922-8C>T rs200508870 0.00076
NM_006892.4(DNMT3B):c.433-13C>T rs182618840 0.00063
NM_006892.4(DNMT3B):c.143-8C>T rs200349528 0.00053
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) rs143847495 0.00045
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=) rs147402935 0.00044
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) rs150148922 0.00041
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) rs730823 0.00027
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=) rs368295290 0.00026
NM_006892.4(DNMT3B):c.307-15C>G rs150718732 0.00018
NM_006892.4(DNMT3B):c.1126+15T>C rs150368389 0.00016
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile) rs752495145 0.00010
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=) rs200921151 0.00007
NM_006892.4(DNMT3B):c.143-9C>G rs377138079 0.00006
NM_006892.4(DNMT3B):c.1996+7A>G rs556202476 0.00006
NM_006892.4(DNMT3B):c.1297+10T>C rs146299831 0.00005
NM_006892.4(DNMT3B):c.1490+9T>C rs370659978 0.00004
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=) rs140714949 0.00004
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=) rs111877243 0.00004
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=) rs564154904 0.00003
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=) rs373811098 0.00003
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=) rs202113400 0.00002
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=) rs140518698 0.00002
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=) rs138805251 0.00001
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=) rs201067137 0.00001
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=) rs35216603
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) rs759448571
NM_006892.4(DNMT3B):c.921+13G>A rs1979990258

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