ClinVar Miner

Variants from Division Human Genetics,Medical University Innsbruck with conflicting interpretations

Location: Austria — Primary collection method: clinical testing
Minimum review status of the submission from Division Human Genetics,Medical University Innsbruck: Collection method of the submission from Division Human Genetics,Medical University Innsbruck:
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 34 1 24 0 1 5 26

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
Division Human Genetics,Medical University Innsbruck pathogenic likely pathogenic uncertain significance risk factor
pathogenic 1 21 2 1
likely pathogenic 3 0 3 0

Submitter to submitter summary #

Total submitters: 19
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
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 16 0 0 0 16
Counsyl 0 14 0 5 0 0 0 5
Ambry Genetics 0 28 0 2 0 0 1 3
Invitae 0 22 0 3 0 0 0 3
OMIM 0 12 0 1 0 1 0 2
GeneDx 0 25 0 2 0 0 0 2
Mendelics 0 10 0 2 0 0 0 2
Sharing Clinical Reports Project (SCRP) 0 23 0 1 0 0 1 2
GeneReviews 0 0 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 24 0 2 0 0 0 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 37 0 1 0 0 1 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 36 0 2 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 7 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 13 0 1 0 0 0 1
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 9 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 14 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 11 0 0 0 0 1 1
GeneKor MSA 0 12 0 1 0 0 0 1
Color 0 27 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_001733.6(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.6(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.6(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.6(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.6(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delTCinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001734.3(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_201442.3(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974

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