Variants from GenMed Metabolism Lab with conflicting interpretations

Minimum review status of the submission from GenMed Metabolism Lab:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from GenMed Metabolism Lab:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-03-31

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
277	23	0	10	0	0	7	17

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	10	6	1	1

Submitter to submitter summary #

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
GeneDx	0	13	0	6	0	0	2	8
PreventionGenetics, part of Exact Sciences	0	0	0	1	0	0	3	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	0	0	0	2	2
Eurofins Ntd Llc (ga)	0	7	0	0	0	0	2	2
CeGaT Center for Human Genetics Tuebingen	0	6	0	1	0	0	1	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	0	0	0	1	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	0	1	0	0	0	1
Mendelics	0	0	0	0	0	0	1	1
CSER _CC_NCGL, University of Washington	0	0	0	0	0	0	1	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00058
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	rs67939655	0.00011
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)	rs67486158	0.00005
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	rs72558495	0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met)	rs72554356	0.00001
NM_000531.6(OTC):c.119G>A (p.Arg40His)	rs72554308
NM_000531.6(OTC):c.156A>T (p.Glu52Asp)	rs72554318
NM_000531.6(OTC):c.167T>C (p.Met56Thr)	rs72554320
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)	rs72556297
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	rs72558406
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)	rs72558415
NM_000531.6(OTC):c.659C>T (p.Pro220Leu)	rs72558426
NM_000531.6(OTC):c.788A>G (p.Asp263Gly)	rs72558443
NM_000531.6(OTC):c.791C>T (p.Thr264Ile)	rs67156896
NM_000531.6(OTC):c.793T>C (p.Trp265Arg)	rs72558445
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	rs72558478