Variants from Dobyns Lab, Seattle Children's Research Institute with conflicting interpretations

Minimum review status of the submission from Dobyns Lab, Seattle Children's Research Institute:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Dobyns Lab, Seattle Children's Research Institute:	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
34	12	0	12	0	0	2	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
Dobyns Lab, Seattle Children's Research Institute		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	10	0	0
	likely pathogenic	2	0	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
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	6	0	0	0	6
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	1	0	0	1	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	1	0	0	1	2
Genetic Services Laboratory, University of Chicago	0	1	0	1	0	0	0	1
Revvity Omics, Revvity	0	1	0	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	0	0	0	1	0	0	0	1
Counsyl	0	0	0	1	0	0	0	1
3billion	0	1	0	1	0	0	0	1
DASA	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)	rs532329866	0.00015
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	rs200876642	0.00001
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	rs794727970
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	rs796052231
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg)	rs1488808726
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)	rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr)	rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly)	rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe)	rs1557670520
NM_012090.5(MACF1):c.10617+444_15577-288del
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	rs1554823375