ClinVar Miner

Variants from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota:
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
244 55 6 42 0 0 14 56

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.

All submitters
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota pathogenic likely pathogenic uncertain significance
pathogenic 5 9 4
likely pathogenic 33 1 10

Submitter to submitter summary #

Total submitters: 22
Download table as spreadsheet
Submitter 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
Invitae 0 26 0 13 0 0 8 21
OMIM 0 14 0 10 0 0 0 10
Counsyl 0 8 0 5 0 0 4 9
GeneReviews 0 2 4 1 0 0 0 5
Leiden Open Variation Database 0 8 0 4 0 0 1 5
Natera, Inc. 0 9 0 2 0 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 1 0 2 0 0 1 3
Research and Development, ARUP Laboratories 0 2 1 2 0 0 0 3
Baylor Genetics 0 7 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 7 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 1 0 0 0 1
Mendelics 0 1 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Research Group Niklas Dahl,Uppsala University 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001127713.1(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_007113.3(TCHH):c.991C>T (p.Gln331Ter) rs201930497
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672

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