ClinVar Miner

Variants with conflicting interpretations between Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center and Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center: Collection method of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center:
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
321 114 0 48 2 0 33 83

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 7 0 0
likely pathogenic 41 0 8 0
uncertain significance 17 8 0 1
likely benign 0 0 1 0

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn) rs200406024 0.00016
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) rs779736415 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_017547.4(FOXRED1):c.733+1G>A
NM_018947.6(CYCS):c.79C>T (p.His27Tyr) rs1783403912
NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814

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