ClinVar Miner

Variants from Institute of Reproductive Genetics, University of Münster with conflicting interpretations

Location: Germany  Primary collection method: research
Minimum review status of the submission from Institute of Reproductive Genetics, University of Münster: Collection method of the submission from Institute of Reproductive Genetics, University of Münster:
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
101 6 0 13 6 5 9 24

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
Institute of Reproductive Genetics, University of Münster pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 8 4 3 2 4 1
likely pathogenic 5 0 3 1 1 0 0
uncertain significance 1 1 0 5 4 0 0
likely benign 0 0 1 0 3 0 0

Submitter to submitter summary #

Total submitters: 30
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
CeGaT Center for Human Genetics Tuebingen 0 8 0 2 4 0 4 10
PreventionGenetics, part of Exact Sciences 0 3 0 1 2 0 3 6
Invitae 0 0 0 1 4 0 1 6
Eurofins Ntd Llc (ga) 0 7 0 2 1 0 3 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 6 0 2 1 0 3 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 7 0 2 0 0 3 5
PharmGKB 0 0 0 0 0 4 0 4
Illumina Laboratory Services, Illumina 0 1 0 0 1 0 3 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 3 3
GeneDx 0 3 0 2 0 0 1 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 0 1 0 2 3
Institute of Reproductive Genetics, University of Münster 127 1 0 3 0 0 0 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 6 0 1 0 0 1 2
Revvity Omics, Revvity 0 4 0 0 0 0 2 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 0 0 1 2
OMIM 0 1 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 1 1
Mendelics 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 0 1 1
Blueprint Genetics 0 2 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 0 0 1 1
Clinical Bioinformatic Lab, Royan Institute 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 0 0 1 1
CFTR-France 0 4 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001350162.2(TEX15):c.7118G>A (p.Ser2373Asn) rs61738844 0.01620
NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr) rs61752339 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_031272.5(TEX14):c.709C>G (p.Gln237Glu) rs35551271 0.00360
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg) rs150606321 0.00147
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) rs140506267 0.00108
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu) rs377712900 0.00005
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs) rs1600877766
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs) rs1600840291
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs) rs753462162
NM_014940.4(MON1B):c.*1165C>G rs112674196

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