Variants from Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta with conflicting interpretations

Minimum review status of the submission from Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta:	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: 2025-03-05

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
15	0	0	0	0	5	0	5

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
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta		benign	protective	risk factor
	confers sensitivity	1	0	0
	uncertain risk allele	3	1	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
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	0	3	0	3
OMIM	0	0	0	0	0	2	0	2
Athena Diagnostics	0	0	0	0	0	1	0	1
GeneDx	0	0	0	0	0	1	0	1
PreventionGenetics, part of Exact Sciences	0	0	0	0	0	1	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	0	0	0	0	1	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	0	1	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	0	1	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	0	0	0	0	1	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)	rs3761863	0.61824
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile)	rs5743618	0.50543
NM_001370466.1(NOD2):c.*397A>C	rs3135499	0.45667
NM_002438.4(MRC1):c.1186G>A (p.Gly396Ser)	rs606231248	0.31451
NM_153218.4(LACC1):c.760A>G (p.Ile254Val)	rs3764147	0.26736