ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial complex II deficiency

Coded as:
Minimum review status of the submission for Mitochondrial complex II deficiency: Y axis collection method of the submission for Mitochondrial complex II deficiency:
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
9 16 0 28 4 0 6 36

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 5 1 0
uncertain significance 1 1 0 4 0
likely benign 0 0 0 0 26

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
not specified 0 0 0 26 2 0 2 30
Hereditary cancer-predisposing syndrome 0 5 0 23 4 0 2 28
Mitochondrial complex II deficiency; Paragangliomas 5 0 6 0 13 2 0 4 19
not provided 0 3 0 12 0 0 0 12
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 0 0 0 0 0 0 2 2
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Leigh syndrome 0 43 0 0 0 0 1 1
Mitochondrial complex II deficiency 60 0 0 0 0 0 1 1
Paragangliomas 5 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_001042631.2(SDHAF1):c.333C>G (p.Arg111=) rs76336581
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_004168.4(SDHA):c.-4A>G rs377134185
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219
NM_004168.4(SDHA):c.1664-8G>A rs199790689
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.4(SDHA):c.1908+15C>T rs34504623
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100

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