ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
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
36 266 0 38 74 0 4 115

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 5 2 0
likely pathogenic 1 0 0 0
uncertain significance 0 1 0 0
likely benign 0 0 49 0
benign 1 1 25 32

All variants with conflicting interpretations #

Total variants: 115
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr) rs749678590
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.462-13dup rs572562362
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004614.5(TK2):c.231+10C>T rs187517309
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_006012.4(CLPP):c.368-8G>A rs143053584
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014946.4(SPAST):c.1196C>T rs1553317025
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr) rs149251662
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_018109.3(MTPAP):c.158-9C>T rs139217290
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020686.6(ABAT):c.1269+4A>C rs183947905
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424
Single allele rs28359170

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