ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Mendelics

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
700 56 0 17 13 0 2 32

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 benign
pathogenic 0 0 0 1 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 1 0 2 1
likely benign 0 0 7 0 3
benign 0 0 3 12 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_001007792.1(NTRK1):c.1702C>T (p.His568Tyr) rs6336
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482

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