ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial complex II deficiency; Paragangliomas 5

Coded as:
Minimum review status of the submission for Mitochondrial complex II deficiency; Paragangliomas 5: Y axis collection method of the submission for Mitochondrial complex II deficiency; Paragangliomas 5:
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
367 127 0 23 15 0 12 50

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
Mitochondrial complex II deficiency; Paragangliomas 5 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 5 6 0 6 1
likely benign 1 0 8 0 0
benign 0 0 0 17 0

Condition to condition summary #

Total conditions: 9
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
Hereditary cancer-predisposing syndrome 0 123 0 7 6 0 6 19
Mitochondrial complex II deficiency 0 6 0 13 2 0 4 19
Leigh syndrome 0 6 0 13 2 0 0 15
Pheochromocytoma 0 5 0 13 2 0 0 15
Paragangliomas 5 0 34 0 3 5 0 2 10
not specified 0 30 0 6 4 0 0 10
not provided 0 14 0 4 0 0 4 8
Carney triad 0 0 0 1 0 0 0 1
SDHA-Related Disorders 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_004168.3(SDHA):c.-7A>C rs751633537
NM_004168.3(SDHA):c.1064+4C>T rs768276870
NM_004168.3(SDHA):c.1065-4C>A rs575007678
NM_004168.3(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.3(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.3(SDHA):c.1176C>T (p.Gly392=) rs1041950
NM_004168.3(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.3(SDHA):c.1340A>G (p.His447Arg) rs779151375
NM_004168.3(SDHA):c.136A>G (p.Lys46Glu) rs144599870
NM_004168.3(SDHA):c.1413C>T (p.Ile471=) rs34779890
NM_004168.3(SDHA):c.1432_1432+1delGG rs878854627
NM_004168.3(SDHA):c.146A>G (p.Asp49Gly) rs80207011
NM_004168.3(SDHA):c.1471G>T (p.Glu491Ter) rs778207102
NM_004168.3(SDHA):c.150+1G>A rs1057523165
NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile) rs151266052
NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.3(SDHA):c.1534C>T (p.Arg512Ter) rs748089700
NM_004168.3(SDHA):c.1551+4A>G rs928294715
NM_004168.3(SDHA):c.1569T>C (p.Ala523=) rs150192376
NM_004168.3(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.3(SDHA):c.1623G>A (p.Lys541=) rs35502109
NM_004168.3(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.3(SDHA):c.1661G>A (p.Arg554Gln) rs376391115
NM_004168.3(SDHA):c.1663+1G>T rs766667009
NM_004168.3(SDHA):c.1664-8G>A rs199790689
NM_004168.3(SDHA):c.1751C>T (p.Ala584Val) rs201068049
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.3(SDHA):c.1765C>T (p.Arg589Trp) rs387906780
NM_004168.3(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.3(SDHA):c.1909-2A>G rs747939816
NM_004168.3(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.3(SDHA):c.1979C>G (p.Ala660Gly) rs191412461
NM_004168.3(SDHA):c.1A>G (p.Met1Val) rs1061517
NM_004168.3(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.3(SDHA):c.441C>T (p.Pro147=) rs201453889
NM_004168.3(SDHA):c.456+6G>T rs371735891
NM_004168.3(SDHA):c.456+9C>T rs200565489
NM_004168.3(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.3(SDHA):c.622-5T>C rs878854634
NM_004168.3(SDHA):c.622-8T>C rs370714378
NM_004168.3(SDHA):c.723C>T (p.Asp241=) rs146653693
NM_004168.3(SDHA):c.818C>T (p.Thr273Ile) rs587781720
NM_004168.3(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004168.3(SDHA):c.969C>T (p.Gly323=) rs142849100

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