ClinVar Miner

Variants from Medical Genetics, University of Parma with conflicting interpretations

Location: Italy — Primary collection method: clinical testing
Minimum review status of the submission from Medical Genetics, University of Parma: Collection method of the submission from Medical Genetics, University of Parma:
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
126 51 1 16 5 0 13 35

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
Medical Genetics, University of Parma pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 6 1 0 0
likely pathogenic 10 0 1 1 0
uncertain significance 7 6 0 4 2

Submitter to submitter summary #

Total submitters: 17
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 53 0 8 4 0 8 20
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 27 0 5 2 0 2 9
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 27 0 3 0 0 2 5
Medical Genomics Laboratory,Department of Genetics UAB 0 0 0 0 0 0 2 2
Mendelics 0 2 0 0 1 0 1 2
Research and Development, ARUP Laboratories 0 0 1 0 0 0 1 2
OMIM 0 6 0 0 0 0 1 1
Baylor Genetics 0 2 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 8 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 3 0 0 0 0 1 1
Natera, Inc. 0 0 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 8 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1392+1del rs1060500347
NM_000267.3(NF1):c.1527+1G>C rs1060500331
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.3113+2T>C rs876658997
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_000267.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6756+2T>C rs1135402894
NM_000267.3(NF1):c.6756G>T (p.Lys2252Asn) rs1060500373
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6915T>C (p.Asp2305=) rs1135402896
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_000267.3(NF1):c.888+1G>C rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722

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