ClinVar Miner

Variants in gene PROC 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
152 10 0 13 8 0 2 22

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 5 2 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 2 0 0 5 3
likely benign 0 0 5 0 8
benign 0 0 3 8 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
NM_000312.3(PROC):c.-50A>T rs1799810
NM_000312.3(PROC):c.1107G>A (p.Pro369=) rs61731660
NM_000312.3(PROC):c.1161T>C (p.Cys387=) rs148855579
NM_000312.3(PROC):c.1216A>G (p.Met406Val) rs1553425459
NM_000312.3(PROC):c.1272G>A (p.Glu424=) rs770534863
NM_000312.3(PROC):c.1299C>T (p.Gly433=) rs151319700
NM_000312.3(PROC):c.169C>T (p.Arg57Trp) rs757583846
NM_000312.3(PROC):c.30C>T (p.Phe10=) rs148490199
NM_000312.3(PROC):c.399C>T (p.Arg133=) rs200045749
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000312.3(PROC):c.630G>A (p.Pro210=) rs2069927
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) rs121918143
NM_000312.3(PROC):c.66T>C (p.Pro22=) rs144300387
NM_000312.3(PROC):c.678+10G>A rs776905824
NM_000312.3(PROC):c.768T>C (p.Asp256=) rs5937
NM_000312.3(PROC):c.891C>T (p.Asp297=) rs5935
NM_000312.3(PROC):c.927C>T (p.Ala309=) rs200731614
NM_000312.3(PROC):c.935C>T (p.Ser312Leu) rs121918160
NM_000312.4(PROC):c.1326C>T (p.Leu442=) rs748650244
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000312.4(PROC):c.660G>A (p.Arg220=)
NM_000312.4(PROC):c.924C>T (p.Pro308=) rs13388546

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