ClinVar Miner

Variants from University Children's Hospital, University of Zurich with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from University Children's Hospital, University of Zurich: Collection method of the submission from University Children's Hospital, University of Zurich:
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
66 15 0 17 0 0 11 28

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
University Children's Hospital, University of Zurich likely pathogenic uncertain significance likely benign
pathogenic 17 10 1

Submitter to submitter summary #

Total submitters: 11
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 10 0 5 0 0 11 16
Fulgent Genetics, Fulgent Genetics 0 3 0 4 0 0 0 4
Counsyl 0 3 0 3 0 0 0 3
MGZ Medical Genetics Center 0 0 0 2 0 0 0 2
Natera, Inc. 0 3 0 2 0 0 0 2
Baylor Genetics 0 3 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) rs138189536 0.00008
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330 0.00001
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp) rs786204026
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.264_302dup (p.Leu89_Pro101dup) rs786204010
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) rs780082584

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