Variants from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire with conflicting interpretations

Minimum review status of the submission from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire:	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
98	1	0	8	5	0	0	10

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
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire		uncertain significance	likely benign
	benign	5	8

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	1	0	3	1	0	0	4
PreventionGenetics, part of Exact Sciences	0	1	0	3	1	0	0	4
Eurofins Ntd Llc (ga)	0	0	0	3	1	0	0	4
CeGaT Center for Human Genetics Tuebingen	0	0	0	4	0	0	0	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	2	1	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	2	1	0	0	3
Ambry Genetics	0	1	0	2	0	0	0	2
Athena Diagnostics Inc	0	0	0	0	1	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	0	0	1
Revvity Omics, Revvity	0	0	0	0	1	0	0	1
Invitae	0	1	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	0	1	0	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)	rs147207100	0.00096
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)	rs146400809	0.00088
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn)	rs138399787	0.00063
NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala)	rs201561286	0.00030
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)	rs200193877	0.00024
NM_001401501.2(MUC16):c.7075A>G (p.Ile2359Val)	rs200019597	0.00019
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	rs369717556	0.00010
NM_001382273.1(TNK2):c.1777G>A (p.Val593Met)	rs375205272	0.00009
NM_004714.3(DYRK1B):c.625G>A (p.Val209Ile)	rs556237495	0.00001
NM_001401501.2(MUC16):c.7099del (p.Ser2367fs)	rs759867982