ClinVar Miner

Variants in gene SUMF1 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 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
201 17 0 12 12 1 2 24

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 drug response protective other
pathogenic 0 8 1 0 0 0 0 0
likely pathogenic 8 0 1 0 0 0 0 0
uncertain significance 2 2 0 11 2 1 1 1
likely benign 0 0 10 0 4 0 0 0
benign 0 0 1 4 0 0 0 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
NM_182760.4(SUMF1):c.*10_*11delinsGT rs71623163
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.445-22T>C rs711634
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187
Single allele

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