ClinVar Miner

Variants from Familial Cancer Clinic,Veneto Institute of Oncology with conflicting interpretations

Location: Italy — Primary collection method: not provided
Minimum review status of the submission from Familial Cancer Clinic,Veneto Institute of Oncology: Collection method of the submission from Familial Cancer Clinic,Veneto Institute of Oncology:
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
6 1 0 4 0 4 5 12

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
Familial Cancer Clinic,Veneto Institute of Oncology pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 4 3 3 2 4

Submitter to submitter summary #

Total submitters: 7
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 0 0 2 0 0 5 7
Ambry Genetics 0 0 0 3 0 0 3 6
OMIM 0 0 0 0 0 4 0 4
GeneDx 0 0 0 1 0 0 1 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 2 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_017849.3(TMEM127):c.117_120delGTCT (p.Ile41Argfs) rs121908816
NM_017849.3(TMEM127):c.149_150insA (p.Pro51Alafs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268delACAG (p.Thr89Cysfs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830

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