ClinVar Miner

Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 140
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HGVS dbSNP gnomAD frequency
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_147127.5(EVC2):c.3272+8G>A rs201800139

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