ClinVar Miner

Variants in gene SURF1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
84 16 0 9 5 0 1 14

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 1 0 0 4 2
likely benign 0 0 4 0 6
benign 0 0 2 6 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_003172.2(SURF1):c.17C>T (p.Ala6Val) rs587727919
NM_003172.3(SURF1):c.-11_13del24 rs863224229
NM_003172.3(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.3(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.3(SURF1):c.54+10G>A rs587598397
NM_003172.3(SURF1):c.54+9C>G rs587675928
NM_003172.3(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.3(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003172.3(SURF1):c.586C>T (p.Gln196Ter) rs147816470
NM_003172.3(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_003172.3(SURF1):c.745A>G (p.Asn249Asp) rs587669420
NM_003172.3(SURF1):c.758_759delCA (p.Thr253Serfs) rs782349178
NM_003172.3(SURF1):c.809_826dup (p.Ile275_Val276insGluHisLeuGlnTyrIle)
NM_003172.3(SURF1):c.883C>T (p.Arg295Cys) rs147312193

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