Variants from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles with conflicting interpretations

Minimum review status of the submission from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles:	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: 2025-03-29

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
27	18	0	7	1	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
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	3	4	0
	likely pathogenic	4	0	2	0
	uncertain significance	0	0	0	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
OMIM	0	7	0	4	0	0	0	4
Genetic Services Laboratory, University of Chicago	0	3	0	1	0	0	2	3
Illumina Laboratory Services, Illumina	0	3	0	0	0	0	3	3
Revvity Omics, Revvity	0	2	0	0	0	0	1	1
Counsyl	0	0	0	1	0	0	0	1
Labcorp Genetics (formerly Invitae), Labcorp	0	3	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	0	0	1	0	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	5	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1	1
New York Genome Center	0	0	0	0	0	0	1	1
3billion, Medical Genetics	0	0	0	1	0	0	0	1
Clinical Genetics Laboratory, CHRU Nancy	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)	rs201342438	0.00263
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser)	rs140748251	0.00027
NM_001083961.2(WDR62):c.1043+3A>G	rs587784541	0.00009
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	rs146262009	0.00004
NM_024596.5(MCPH1):c.322-1G>C	rs201721894	0.00004
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)	rs267606718	0.00003
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=)	rs778207666	0.00002
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)	rs387907083	0.00001
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)	rs1131691783
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)	rs587777743
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)	rs2132705299
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	rs587784491
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)	rs199422163
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)	rs770540184