ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "pathogenic" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 180
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HGVS dbSNP
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.69+5590T>A rs1557211730
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000409.4(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.2(RYR1):c.6640G>A (p.Val2214Ile) rs193922795
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074
NM_001072.4(UGT1A6):c.1081G>A (p.Gly361Ser) rs755218546
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) rs28941780
NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001184.4(ATR):c.1358_1359del (p.His453fs) rs886044646
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182
NM_001256850.1(TTN):c.39893-1G>A rs749705939
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213
NM_001301365.1(LYST):c.7862T>C (p.Met2621Thr) rs368500877
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001366537.2(TBXAS1):c.151-24958T>C rs140005285
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_002016.2(FLG):c.2476C>T rs115746363
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006516.3(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014639.3(TTC37):c.4507C>T (p.Arg1503Cys) rs200067423
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_017668.3(NDE1):c.1A>G (p.Met1Val) rs794727491
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900
NM_032682.5(FOXP1):c.1652+5G>A rs794727216
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033360.4(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_078470.6(COX15):c.396-3C>G rs200910834
NM_144773.3(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly) rs58541611
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354
NM_182961.4(SYNE1):c.226-2dup rs774388631
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697
NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) rs529961953
Single allele

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