Variants from SNPedia with conflicting interpretations

Minimum review status of the submission from SNPedia:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from SNPedia:	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
56	47	0	9	0	0	5	11

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
SNPedia		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	7	2
	likely pathogenic	2	0	3

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
Invitae	0	5	0	3	0	0	1	4
GeneDx	0	30	0	3	0	0	0	3
Counsyl	0	1	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	7	0	1	0	0	0	1
Natera, Inc.	0	4	0	1	0	0	0	1
LDLR-LOVD, British Heart Foundation	0	1	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	0	0	0	0	1	1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	0	0	1	0	0	0	1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	0	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	0	0	0	1	1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	0	0	0	0	0	1	1
DASA	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)	rs869320650	0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)	rs869320652	0.00001
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)	rs869312994
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.718+5G>A	rs869312990
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)	rs869320648
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)	rs587776411
NM_024675.4(PALB2):c.2834+1G>T	rs587776419
NM_024675.4(PALB2):c.3201+1G>C	rs587776423
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428