ClinVar Miner

Variants from Dan Cohn Lab,University Of California Los Angeles with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Dan Cohn Lab,University Of California Los Angeles: Collection method of the submission from Dan Cohn Lab,University Of California Los Angeles:
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
139 31 1 21 2 2 23 42

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
Dan Cohn Lab,University Of California Los Angeles pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 1 20 20 2 1 1 1
likely pathogenic 2 0 1 0 0 0 0
uncertain significance 1 0 0 1 1 0 0

Submitter to submitter summary #

Total submitters: 22
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 6 0 0 8 14
Invitae 0 7 0 1 1 0 9 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 2 0 0 7 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 3 0 0 3 6
Illumina Clinical Services Laboratory,Illumina 0 2 0 2 0 0 3 5
Counsyl 0 4 0 2 0 0 2 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 2 0 1 0 0 1 2
OMIM 0 18 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
PreventionGenetics 0 0 0 0 1 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 0 0 0 1 1
Dan Cohn Lab,University Of California Los Angeles 194 17 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_001006657.1(WDR35):c.1922T>G (p.Leu641Ter) rs199952377
NM_001006657.1(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_001006657.1(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_001080463.1(DYNC2H1):c.10163C>T (p.Pro3388Leu) rs368631447
NM_001080463.1(DYNC2H1):c.10343T>C (p.Leu3448Pro) rs771487311
NM_001080463.1(DYNC2H1):c.10594C>T (p.Arg3532Ter) rs181011657
NM_001080463.1(DYNC2H1):c.11284A>G (p.Met3762Val) rs137853026
NM_001080463.1(DYNC2H1):c.12431C>G (p.Pro4144Arg) rs761765709
NM_001080463.1(DYNC2H1):c.12460C>T (p.Arg4154Cys) rs755441612
NM_001080463.1(DYNC2H1):c.2040dup (p.Ala681Cysfs) rs1555042801
NM_001080463.1(DYNC2H1):c.3097-4A>G rs368802969
NM_001080463.1(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001080463.1(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001080463.1(DYNC2H1):c.4162_4170dup (p.Thr1390_Leu1391insValThrThr) rs1555051720
NM_001080463.1(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001080463.1(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_001080463.1(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294
NM_001080463.1(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001080463.1(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001080463.1(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001080463.1(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001080463.1(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001199397.1(NEK1):c.2814_2817delCAAA (p.Asn938Lysfs) rs752878896
NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_002296.3(LBR):c.1535G>A (p.Arg512Gln) rs754049402
NM_012224.2(NEK1):c.214+1G>A rs1049502301
NM_014714.3(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_018051.4(WDR60):c.1777C>T (p.Arg593Trp) rs776300442
NM_020800.2(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.2(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_024753.4(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900
NM_024753.4(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_025132.4(WDR19):c.781dup (p.Thr261Asnfs) rs748656635
NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) rs587777096
NM_147127.4(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.4(EVC2):c.3360+1G>A rs1553815019
NM_147127.4(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_153717.2(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.2(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.2(EVC):c.904_906delAAG (p.Lys302del) rs755381180

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