ClinVar Miner

Variants with conflicting interpretations between Baylor Genetics and Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
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
36 112 0 33 0 0 12 45

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 26 3 0
likely pathogenic 7 0 1 1
uncertain significance 0 6 0 0
likely benign 1 0 0 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295

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