ClinVar Miner

Variants with conflicting interpretations studied for Waardenburg syndrome

Coded as:
Minimum review status of the submission for Waardenburg syndrome: Y axis collection method of the submission for Waardenburg syndrome:
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
1 177 0 27 8 1 1 32

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
Waardenburg syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor
uncertain significance 0 0 0 5 0 0
likely benign 1 1 3 0 27 1

Condition to condition summary #

Total conditions: 6
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
not specified 0 5 0 26 5 0 0 31
not provided 0 3 0 5 2 0 0 7
Hirschsprung disease 2 0 0 0 0 1 1 0 2
Congenital central hypoventilation 0 0 0 0 0 0 1 1
Congenital diaphragmatic hernia 0 0 0 0 1 0 0 1
Hirschsprung disease 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000248.3(MITF):c.-36G>A rs77588960
NM_000248.3(MITF):c.1245G>A (p.Thr415=) rs36118030
NM_000248.3(MITF):c.1248G>A (p.Glu416=) rs200830148
NM_000248.3(MITF):c.45C>T (p.His15=) rs140663277
NM_000248.3(MITF):c.559+9C>G rs181810413
NM_000248.3(MITF):c.861A>G (p.Glu287=) rs137904015
NM_000248.3(MITF):c.959T>C (p.Val320Ala) rs2055006
NM_001122659.3(EDNRB):c.*1767C>T rs3027092
NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350
NM_003068.5(SNAI2):c.606A>G (p.Gly202=) rs370952195
NM_006941.3(SOX10):c.122G>T (p.Gly41Val) rs199750760
NM_006941.3(SOX10):c.18C>T (p.Asp6=) rs149435516
NM_006941.3(SOX10):c.249C>T (p.Tyr83=) rs73415876
NM_006941.3(SOX10):c.428+10C>G rs201638602
NM_006941.3(SOX10):c.753G>A (p.Ser251=) rs376907937
NM_181457.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924
NM_181457.4(PAX3):c.1174-10G>C rs2855268
NM_181457.4(PAX3):c.126C>A (p.Gly42=) rs369680052
NM_181457.4(PAX3):c.156C>G (p.Pro52=) rs28945092
NM_181457.4(PAX3):c.321+10C>A rs140960868
NM_181457.4(PAX3):c.807C>T (p.Asn269=) rs45501393
NM_181457.4(PAX3):c.873C>T (p.Pro291=) rs141545923
NM_181457.4(PAX3):c.879G>T (p.Gly293=) rs45522331
NM_181457.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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