ClinVar Miner

Variants from Claritas Genomics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Claritas Genomics: Collection method of the submission from Claritas Genomics:
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
74 24 1 22 6 1 2 32

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
Claritas Genomics pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 2 0 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 0 2 0 3 3 0
likely benign 0 0 1 0 4 0
benign 0 0 0 15 0 1

Submitter to submitter summary #

Total submitters: 18
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
Genetic Services Laboratory, University of Chicago 0 7 0 15 0 0 0 15
Invitae 0 2 0 1 4 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 6 0 3 0 0 0 3
GeneDx 0 13 0 3 0 0 0 3
PreventionGenetics, PreventionGenetics 0 18 0 3 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 18 0 2 1 0 0 3
Ambry Genetics 0 8 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 0 0 0 2 2
OMIM 0 8 0 1 0 0 0 1
Baylor Genetics 0 2 0 1 0 0 0 1
Athena Diagnostics Inc 0 4 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
GeneReviews 0 1 1 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.