ClinVar Miner

Variants from Genologica Medica with conflicting interpretations

Location: Spain — Primary collection method: clinical testing
Minimum review status of the submission from Genologica Medica: Collection method of the submission from Genologica Medica:
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
0 53 2 5 0 2 7 11

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
Genologica Medica pathogenic likely pathogenic uncertain significance risk factor
pathogenic 2 4 6 2
likely pathogenic 1 0 1 0

Submitter to submitter summary #

Total submitters: 14
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
Breast Cancer Information Core (BIC) (BRCA1) 0 19 0 0 0 0 4 4
Sharing Clinical Reports Project (SCRP) 0 31 0 0 0 0 3 3
OMIM 0 10 0 0 0 2 0 2
Ambry Genetics 0 41 0 2 0 0 0 2
Counsyl 0 24 0 2 0 0 0 2
GeneReviews 0 0 2 0 0 0 0 2
Color 0 34 0 2 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 8 0 0 0 0 1 1
GeneDx 0 39 0 1 0 0 0 1
Invitae 0 34 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 22 0 0 0 0 1 1
Department of Medical Genetics,University Hospital of North Norway 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 53 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 27 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395

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