Variants from Chan Lab, Boston Children's Hospital with conflicting interpretations

Minimum review status of the submission from Chan Lab, Boston Children's Hospital:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Chan Lab, Boston Children's Hospital:	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	3	0	0	5	7

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
Chan Lab, Boston Children's Hospital		pathogenic	uncertain significance	likely benign	benign
	likely pathogenic	3	3	2	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
GeneDx	0	0	0	2	0	0	2	4
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	0	0	0	4	4
Genetic Services Laboratory, University of Chicago	0	0	0	0	0	0	2	2
Mendelics	0	0	0	0	0	0	2	2
CeGaT Center for Human Genetics Tuebingen	0	0	0	0	0	0	2	2
OMIM	0	0	0	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	0	0	0	0	0	0	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	0	0	0	1	1
Institute of Human Genetics, University Hospital Muenster	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile)	rs138952094	0.00076
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)	rs199538589	0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)	rs184758350	0.00063
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)	rs200088377	0.00012
NM_013251.4(TAC3):c.248A>G (p.His83Arg)	rs143862988	0.00010
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)	rs727505371
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	rs121909628