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 Invitae

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 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
0 63 0 56 10 0 30 96

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 3 1 0 0
likely pathogenic 48 0 15 0 0
uncertain significance 4 5 0 3 2
likely benign 4 1 5 0 2
benign 0 0 0 3 0

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1358+7G>A rs369709333
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.3(PCSK9):c.1773C>G (p.His591Gln) rs529912877
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.3(PCSK9):c.616G>A (p.Glu206Lys) rs753857795
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) rs72646509
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261

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