ClinVar Miner

Variants with conflicting interpretations "pathogenic" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "uncertain significance" 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: 82
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HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000157.4(GBA):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.870G>C (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.9212-1G>A rs398123391
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_032753.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_213599.2(ANO5):c.2176dup (p.Ser726fs) rs797044667
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
Single allele

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