ClinVar Miner

Variants with conflicting interpretations studied for Bare lymphocyte syndrome 2

Coded as:
Minimum review status of the submission for Bare lymphocyte syndrome 2: Y axis collection method of the submission for Bare lymphocyte syndrome 2:
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
275 14 0 16 12 0 2 30

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
Bare lymphocyte syndrome 2 pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 2 0 2 9
likely benign 0 2 0 13
benign 0 10 12 0

Condition to condition summary #

Total conditions: 5
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
Bare lymphocyte syndrome 2 295 3 0 9 11 0 1 21
not specified 0 5 0 6 0 0 0 6
MHC Class II Deficiency 0 0 0 2 1 0 0 3
Bare lymphocyte syndrome type 2, complementation group E 0 0 0 0 0 0 1 1
not provided 0 5 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000246.3(CIITA):c.1973C>G (p.Ala658Gly) rs2229319
NM_000246.3(CIITA):c.200-10T>C rs45474796
NM_000246.3(CIITA):c.2072C>A (p.Ala691Asp) rs78108426
NM_000246.3(CIITA):c.225C>T (p.Cys75=) rs2229318
NM_000246.3(CIITA):c.2286C>A (p.Ile762=) rs35976871
NM_000246.3(CIITA):c.2342C>T (p.Ser781Leu) rs13330686
NM_000246.3(CIITA):c.2345T>C (p.Val782Ala) rs13336804
NM_000246.3(CIITA):c.2472C>T (p.His824=) rs45621432
NM_000246.3(CIITA):c.2565G>A (p.Ala855=) rs2229321
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.2924A>G (p.Lys975Arg) rs140103491
NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) rs75521576
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000449.3(RFX5):c.1226C>G (p.Pro409Arg) rs2233854
NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) rs2233855
NM_000449.3(RFX5):c.446G>A (p.Arg149Gln) rs137853099
NM_000449.3(RFX5):c.590G>A (p.Arg197Gln) rs2233851
NM_000449.3(RFX5):c.64G>A (p.Ala22Thr) rs2233843
NM_000449.3(RFX5):c.982C>A (p.Arg328=) rs78854744
NM_000449.3(RFX5):c.984G>A (p.Arg328=) rs374283593
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000538.3(RFXAP):c.354G>C (p.Ser118=) rs113555392
NM_000538.3(RFXAP):c.410T>C (p.Met137Thr) rs193240312
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_003721.4(RFXANK):c.337+4C>T rs187331767
NM_003721.4(RFXANK):c.712+4A>G rs73922830
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359

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