ClinVar Miner

Variants with conflicting interpretations between Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix and GeneDx

Minimum review status of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix: Collection method of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:
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 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
0 17 0 13 4 0 8 25

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
pathogenic 0 1 0 0
likely pathogenic 10 0 0 0
uncertain significance 2 1 0 1
likely benign 5 0 1 0
benign 0 0 2 2

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_001195798.2(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261

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