Variants from Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University with conflicting interpretations

Minimum review status of the submission from Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University:	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: 2024-06-30

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
93	5	0	4	0	0	6	9

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
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	3	3	0	1
	likely pathogenic	1	0	1	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
GeneDx	0	3	0	1	0	0	3	4
PreventionGenetics, part of Exact Sciences	0	0	0	1	0	0	2	3
CeGaT Center for Human Genetics Tuebingen	0	0	0	1	0	0	1	2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	0	0	1	0	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	0	0	1	1
Revvity Omics, Revvity	0	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	0	0	0	1	1
Invitae	0	0	0	0	0	0	1	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	0	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	0	0	0	0	1	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)	rs28399976	0.01049
NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)	rs201947677	0.00004
NM_006667.5(PGRMC1):c.533C>T (p.Thr178Ile)	rs201254642	0.00003
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)	rs768589918	0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)	rs764585550	0.00001
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)	rs41293513
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	rs80359775
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)	rs1057517779
NM_004959.5(NR5A1):c.938G>A (p.Arg313His)	rs1554721235