ClinVar Miner

Variants with conflicting interpretations studied for Thrombophilia due to protein C deficiency, autosomal dominant

Coded as:
Minimum review status of the submission for Thrombophilia due to protein C deficiency, autosomal dominant: Collection method of the submission for Thrombophilia due to protein C deficiency, autosomal dominant:
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
242 23 0 16 9 0 10 33

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
Thrombophilia due to protein C deficiency, autosomal dominant pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 6 0 0
likely pathogenic 8 0 6 0 0
uncertain significance 6 6 0 8 1
likely benign 0 0 8 0 8
benign 0 0 1 8 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
Thrombophilia due to protein C deficiency, autosomal dominant 242 23 0 16 9 0 10 33

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_000312.4(PROC):c.630G>A (p.Pro210=) rs2069927 0.01043
NM_000312.4(PROC):c.399C>T (p.Arg133=) rs200045749 0.00427
NM_000312.4(PROC):c.924C>T (p.Pro308=) rs13388546 0.00422
NM_000312.4(PROC):c.891C>T (p.Asp297=) rs5935 0.00115
NM_000312.4(PROC):c.66T>C (p.Pro22=) rs144300387 0.00092
NM_000312.4(PROC):c.30C>T (p.Phe10=) rs148490199 0.00059
NM_000312.4(PROC):c.1299C>T (p.Gly433=) rs151319700 0.00032
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000312.4(PROC):c.1161T>C (p.Cys387=) rs148855579 0.00024
NM_000312.4(PROC):c.-54G>A rs2069936 0.00020
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000312.4(PROC):c.678+10G>A rs776905824 0.00008
NM_000312.4(PROC):c.1065C>T (p.Asn355=) rs548020208 0.00004
NM_000312.4(PROC):c.1272G>A (p.Glu424=) rs770534863 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.1326C>T (p.Leu442=) rs748650244 0.00001
NM_000312.4(PROC):c.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) rs121918145 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.660G>A (p.Arg220=) rs1688487502 0.00001
NM_000312.4(PROC):c.70+13C>G rs200660332 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.548G>T (p.Cys183Phe) rs1284942525
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156

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