ClinVar Miner

Variants from Molecular Diagnostics Laboratory,M Health: 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: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory,M Health: 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 Variants with at least 2 submissions 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 kind of conflict
162 45 5 43 0 1 14 58

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: University of Minnesota pathogenic likely pathogenic uncertain significance likely benign drug response
pathogenic 5 17 3 1 0
likely pathogenic 26 0 10 0 1

Submitter to submitter summary #

Total submitters: 24
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
GeneDx 0 8 0 10 0 0 3 13
OMIM 0 20 0 11 0 0 0 11
Counsyl 0 7 0 6 0 0 4 10
Invitae 0 9 0 3 0 0 2 5
GeneReviews 0 0 4 1 0 0 0 5
Illumina Clinical Services Laboratory,Illumina 0 4 0 3 0 0 3 5
Athena Diagnostics Inc 0 5 0 3 0 0 1 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 7 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 3 0 0 0 3
Fulgent Genetics 0 7 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 2 0 0 0 2
ARUP Institute,ARUP Laboratories 0 2 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 1 0 2 0 0 0 2
Ambry Genetics 0 1 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 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
Human Genetics - Radboudumc,Radboudumc 0 2 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 1 0 0 0 1
The Cell Therapy Center,The University of Jordan 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000083.2(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000135.2(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.2(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000138.4(FBN1):c.6379+1G>A rs397515833
NM_000140.3(FECH):c.315-48T>C rs2272783
NM_000159.3(GCDH):c.1286C>T (p.Thr429Met) rs745360675
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000260.3(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000275.2(OCA2):c.1503+5G>A rs368124046
NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) rs62514902
NM_000277.1(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_000328.2(RPGR):c.1905+500_1905+501delAG rs398122960
NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000350.2(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000372.4(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000435.2(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_001034853.1(RPGR):c.2384delA (p.Glu795Glyfs)
NM_001142800.1(EYS):c.6714delT (p.Ile2239Serfs) rs752953889
NM_001163435.2(TBCK):c.1771C>T (p.Gln591Ter) rs1057518332
NM_001270448.1(ACADVL):c.875A>C (p.Gln292Pro) rs776063244
NM_001271208.1(NEB):c.23483delT (p.Met7828Serfs) rs1553603690
NM_003060.3(SLC22A5):c.1556_1559dupACAC (p.Ile521Hisfs) rs386134225
NM_004183.3(BEST1):c.89A>G (p.Lys30Arg) rs281865218
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004937.2(CTNS):c.971-12G>A rs375952052
NM_005562.2(LAMC2):c.3454C>T (p.Gln1152Ter)
NM_006017.2(PROM1):c.1354dupT (p.Tyr452Leufs) rs543698823
NM_006749.4(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_006767.3(LZTR1):c.848G>A (p.Arg283Gln)
NM_007113.3(TCHH):c.991C>T (p.Gln331Ter) rs201930497
NM_014252.3(SLC25A15):c.562_564delTTC (p.Phe188del) rs202247803
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_015909.3(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015915.4(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
NM_022124.5(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_033380.2(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.2(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_080680.2(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138694.3(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296
NM_206933.2(USH2A):c.1859G>T (p.Cys620Phe) rs758571672

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