ClinVar Miner

Variants from GenMed Metabolism Lab with conflicting interpretations

Location: United States — Primary collection method: not provided
Minimum review status of the submission from GenMed Metabolism Lab: Collection method of the submission from GenMed Metabolism Lab:
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
262 41 0 8 0 0 6 14

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
GenMed Metabolism Lab likely pathogenic uncertain significance likely benign benign
pathogenic 8 6 1 1

Submitter to submitter summary #

Total submitters: 13
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
Invitae 0 8 0 2 0 0 4 6
GeneDx 0 9 0 2 0 0 1 3
Integrated Genetics/Laboratory Corporation of America 0 1 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 0 0 0 2 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 0 0 1 1
Fulgent Genetics 0 1 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000531.5(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.5(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.5(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.5(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.5(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.5(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.5(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.5(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.5(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.5(OTC):c.817_819delGAG (p.Glu273del) rs72558452
NM_000531.5(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.5(OTC):c.988A>G (p.Arg330Gly) rs72558478

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