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 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
117 16 0 14 3 0 6 22

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 0 5 1 0 0
likely pathogenic 9 0 1 1 0
uncertain significance 2 2 0 3 2

Submitter to submitter summary #

Total submitters: 16
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
Invitae 0 12 0 5 2 0 4 11
Ambry Genetics 0 4 0 4 3 0 3 10
Center for Human Genetics, Inc 0 7 0 6 0 0 3 9
GeneDx 0 3 0 4 2 0 3 9
OMIM 0 0 0 1 0 0 2 3
Athena Diagnostics Inc 0 1 0 2 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 1 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 1 3
PreventionGenetics 0 0 0 0 2 0 0 2
Fulgent Genetics 0 0 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.1392+1delG (p.Ser465Valfs) rs1060500347
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4973_4978delTCTATA (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5717delT (p.Leu1906Trpfs) rs1135402880
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.2(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_001042492.2(NF1):c.1392+1G>A rs267604791
NM_001042492.2(NF1):c.2990+1G>A rs1135402836
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) rs1321848637
NM_001042492.2(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.2(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.6462dup (p.Glu2155Argfs) rs1135402888
NM_001042492.2(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.2(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.2(NF1):c.7838dup (p.Lys2614Glufs) rs1131691129

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