ClinVar Miner

Variants with conflicting interpretations studied for Hirschsprung Disease, Dominant

Coded as:
Minimum review status of the submission for Hirschsprung Disease, Dominant: Y axis collection method of the submission for Hirschsprung Disease, Dominant:
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
51 111 0 26 16 4 4 37

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
Hirschsprung Disease, Dominant pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
uncertain significance 0 0 0 9 2 0 0
likely benign 4 3 7 0 26 1 3

Condition to condition summary #

Total conditions: 21
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 7 0 21 3 0 0 24
Multiple endocrine neoplasia, type 2 0 8 0 15 7 0 0 22
Hereditary cancer-predisposing syndrome 0 10 0 9 8 0 0 17
not provided 0 2 0 10 6 0 0 15
Multiple endocrine neoplasia, type 2a 0 5 0 3 8 0 2 11
Multiple endocrine neoplasia, type 2b 0 3 0 2 3 0 1 5
Hirschsprung disease 0 0 0 1 1 0 2 4
Familial medullary thyroid carcinoma 0 0 0 1 0 0 1 2
Multiple endocrine neoplasia 0 89 0 2 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 0 0 0 0 1 0 0 1
Congenital central hypoventilation 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Hirschsprung disease 1 0 1 0 0 0 1 0 1
Hirschsprung disease 3 0 0 0 0 0 1 0 1
Hirschsprung disease 4 0 0 0 0 1 1 0 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 1
Medullary thyroid carcinoma 0 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 1 0 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 4 0 0 0 0 0 0 1 1
Pheochromocytoma 0 90 0 0 0 0 1 1
Waardenburg syndrome type 4B 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_020630.5(RET):c.-196C>A rs10900297
NM_020975.6(RET):c.*1969T>C rs3026785
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834
NM_020975.6(RET):c.1760-12G>A rs377767392
NM_020975.6(RET):c.1879+14G>A rs532810255
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.6(RET):c.337+12G>A rs200468424
NM_020975.6(RET):c.337+9G>A rs2435351
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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