ClinVar Miner

Variants in gene KCTD7 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
228 14 0 9 9 1 5 18

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 affects
pathogenic 0 2 2 0 0 0
likely pathogenic 2 0 3 1 0 0
uncertain significance 2 3 0 7 5 1
likely benign 0 1 7 0 7 0
benign 0 0 5 7 0 0
affects 0 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_153033.4(KCTD7):c.133C>T (p.Leu45=) rs587780370
NM_153033.4(KCTD7):c.172G>A (p.Gly58Arg) rs750033880
NM_153033.4(KCTD7):c.192A>G (p.Thr64=) rs142526573
NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) rs149255570
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.4(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.4(KCTD7):c.384G>A (p.Glu128=) rs145238250
NM_153033.4(KCTD7):c.387C>T (p.Ala129=) rs140932942
NM_153033.4(KCTD7):c.456G>A (p.Val152=) rs796052686
NM_153033.4(KCTD7):c.458G>A (p.Arg153His) rs765235486
NM_153033.4(KCTD7):c.533C>T (p.Ala178Val) rs368001837
NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) rs387907246
NM_153033.4(KCTD7):c.621C>A (p.Leu207=) rs376944331
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_153033.4(KCTD7):c.687T>C (p.Asp229=) rs372150992
NM_153033.5(KCTD7):c.280C>T rs387907260

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