ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
0 206 0 122 31 0 8 161

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 6 1 0 1
likely pathogenic 4 0 2 1 0
uncertain significance 0 3 0 10 5
likely benign 0 0 15 0 104
benign 0 0 1 8 0

All variants with conflicting interpretations #

Total variants: 161
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000445.5(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) rs61734214
NM_001277269.1(OTOG):c.4048C>T (p.Arg1350Trp) rs61734125
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129
NM_005219.5(DIAPH1):c.1821_1823TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821_1823TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005450.5(NOG):c.275G>A (p.Gly92Glu) rs199566527
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815
NM_013995.2(LAMP2):c.1171G>A (p.Val391Ile) rs144140265
NM_014009.3(FOXP3):c.543C>T (p.Ser181=) rs2232367
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283
NM_014722.5(RIPOR2):c.1676C>T (p.Ser559Leu) rs142889670
NM_014722.5(RIPOR2):c.1836A>C (p.Leu612Phe) rs143785002
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_018389.4(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) rs150877886
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153700.2(STRC):c.4127+8C>T rs2470137
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_173591.3(OTOGL):c.6202T>G (p.Cys2068Gly) rs145929269
NM_174917.5(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_203447.3(DOCK8):c.3840+3A>G rs16938572
NM_203447.3(DOCK8):c.54-1G>T rs192864327
m.1393G>A rs111033325

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