ClinVar Miner

Variants with conflicting interpretations studied for Von Hippel-Lindau syndrome

Coded as:
Minimum review status of the submission for Von Hippel-Lindau syndrome: Collection method of the submission for Von Hippel-Lindau 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
559 92 0 17 10 0 8 34

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
Von Hippel-Lindau syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 15 3 1 0
likely pathogenic 15 0 5 0 0
uncertain significance 3 5 0 9 1
likely benign 1 0 9 0 2
benign 0 0 1 2 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Von Hippel-Lindau syndrome 559 92 0 17 10 0 8 34

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 0.00004
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667

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