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 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 17 13 14 0 7 5 25

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 affects drug response risk factor other
pathogenic 13 14 5 1 1 2 3

Submitter to submitter summary #

Total submitters: 24
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
GeneReviews 0 3 13 0 0 0 0 13
OMIM 0 31 0 0 0 6 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 3 0 0 1 4
Invitae 0 26 0 0 0 0 2 2
Fulgent Genetics 0 27 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 1 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 16 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 8 0 1 0 0 0 1
GeneDx 0 33 0 1 0 0 0 1
Ambry Genetics 0 15 0 1 0 0 0 1
Counsyl 0 16 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 28 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 5 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Illumina Clinical Services Laboratory,Illumina 0 19 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 3 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 11 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 2 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001037.4(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) rs28989186
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_018122.5(DARS2):c.492+2T>C rs142433332
NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584

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