ClinVar Miner

Variants with conflicting interpretations studied for Multiple pterygium syndrome Escobar type

Coded as:
Minimum review status of the submission for Multiple pterygium syndrome Escobar type: Y axis collection method of the submission for Multiple pterygium syndrome Escobar type:
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
5 96 0 11 13 0 0 24

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
Multiple pterygium syndrome Escobar type likely benign benign
uncertain significance 11 4
likely benign 0 11
benign 2 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
not specified 0 3 0 9 8 0 0 17
Lethal multiple pterygium syndrome 0 11 0 3 7 0 0 10
Congenital Myasthenic Syndrome, Dominant/Recessive 0 72 0 2 0 0 0 2
Multiple pterygium syndrome Escobar type 79 44 0 2 0 0 0 2
not provided 0 7 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 24
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HGVS dbSNP
NM_000751.3(CHRND):c.*52A>G rs2767
NM_000751.3(CHRND):c.*885T>C rs1004175
NM_000751.3(CHRND):c.1047+9T>C rs3762528
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965
NM_001039523.3(CHRNA1):c.1035C>T (p.His345=) rs2229957
NM_001039523.3(CHRNA1):c.1077+9G>A rs368959759
NM_001039523.3(CHRNA1):c.111C>T (p.Ser37=) rs886055151
NM_001039523.3(CHRNA1):c.1148A>T (p.Asp383Val) rs6739001
NM_001039523.3(CHRNA1):c.1308G>T (p.Glu436Asp) rs61737716
NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) rs771587252
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752
NM_005199.5(CHRNG):c.507-13C>T rs2853462
NM_005199.5(CHRNG):c.543G>A (p.Gln181=) rs753990044
NM_005199.5(CHRNG):c.921-12C>T rs13018423
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104

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