Variants from Leeds Amelogenesis Imperfecta Research Group, University of Leeds with conflicting interpretations

Minimum review status of the submission from Leeds Amelogenesis Imperfecta Research Group, University of Leeds:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Leeds Amelogenesis Imperfecta Research Group, University of Leeds:	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
47	2	0	5	0	0	3	7

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
Leeds Amelogenesis Imperfecta Research Group, University of Leeds		pathogenic	likely pathogenic	uncertain significance	benign
	pathogenic	0	4	2	1
	likely pathogenic	1	0	1	0

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
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg	0	0	0	0	0	0	2	2
OMIM	0	1	0	1	0	0	0	1
Baylor Genetics	0	2	0	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	0	0	0	0	0	0	1	1
GeneDx	0	1	0	1	0	0	0	1
Revvity Omics, Revvity	0	0	0	0	0	0	1	1
PreventionGenetics, part of Exact Sciences	0	1	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	0	0	0	1	1
Eurofins Ntd Llc (ga)	0	0	0	1	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	0	0	0	0	1	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	0	0	1	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	0	0	0	1	1
Lifecell International Pvt. Ltd	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)	rs146148316	0.00011
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	rs61750427	0.00003
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797
NM_005220.3(DLX3):c.574del (p.Glu192fs)	rs1057518764
NM_016519.6(AMBN):c.571-1G>C
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	rs1060499539