ClinVar Miner

Variants from Breda Genetics srl with conflicting interpretations

Location: Italy  Primary collection method: clinical testing
Minimum review status of the submission from Breda Genetics srl: Collection method of the submission from Breda Genetics srl:
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
179 50 0 16 4 0 3 20

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
Breda Genetics srl pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 0 0 1
likely pathogenic 4 0 1 0 0
uncertain significance 0 0 0 3 0
likely benign 1 0 1 0 2

Submitter to submitter summary #

Total submitters: 19
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 26 0 3 2 0 1 6
Fulgent Genetics, Fulgent Genetics 0 10 0 2 1 0 0 3
Baylor Genetics 0 10 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 0 1
Mendelics 0 4 0 1 0 0 0 1
GeneReviews 0 5 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 3 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Department of Ophthalmology, Flinders University 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_014617.4(CRYGA):c.239G>A (p.Arg80His) rs139353014 0.00221
NM_000088.4(COL1A1):c.391C>A (p.Arg131=) rs776611767 0.00010
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) rs200962317 0.00004
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001556.3(IKBKB):c.987G>A (p.Glu329=) rs1402092076
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_022445.4(TPK1):c.664G>C (p.Asp222His) rs368458768
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773

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