ClinVar Miner

Variants with conflicting interpretations studied for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome

Coded as:
Minimum review status of the submission for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome: Y axis collection method of the submission for Greig cephalopolysyndactyly syndrome; Pallister-Hall 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
42 7 1 20 6 0 2 26

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
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome pathogenic likely pathogenic uncertain significance likely benign
pathogenic 1 0 0 0
uncertain significance 1 1 0 2
likely benign 0 0 3 0
benign 0 1 1 20

Condition to condition summary #

Total conditions: 8
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
Greig cephalopolysyndactyly syndrome 0 5 0 18 0 0 1 19
Pallister-Hall syndrome 0 3 1 17 0 0 0 18
Polydactyly 0 3 0 17 0 0 0 17
not specified 0 15 0 10 1 0 0 11
not provided 0 3 0 5 4 0 0 9
Hirschsprung disease 1 0 0 0 0 0 0 1 1
Postaxial polydactyly type A1 0 0 0 0 0 0 1 1
Postaxial polydactyly, type A1/B 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) rs116840770
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.474-4C>T rs74536326
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911

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