ClinVar Miner

Variants from Courtagen Diagnostics Laboratory, Courtagen Life Sciences with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Courtagen Diagnostics Laboratory, Courtagen Life Sciences: Collection method of the submission from Courtagen Diagnostics Laboratory, Courtagen Life Sciences:
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
1 20 1 17 0 0 5 21

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
Courtagen Diagnostics Laboratory, Courtagen Life Sciences pathogenic likely pathogenic uncertain significance
pathogenic 1 17 5

Submitter to submitter summary #

Total submitters: 25
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
3billion 0 9 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 2 0 3 0 0 0 3
Invitae 0 23 0 1 0 0 1 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 12 0 1 0 0 1 2
MGZ Medical Genetics Center 0 9 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 15 0 1 0 0 0 1
Mendelics 0 10 0 0 0 0 1 1
GeneReviews 0 13 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 15 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 0 0 0 1 1
Genome-Nilou Lab 0 6 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 3 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 6 0 0 0 0 1 1
DASA 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747

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