Variants from Baumgartner lab, University Children's Hospital Zurich with conflicting interpretations

Minimum review status of the submission from Baumgartner lab, University Children's Hospital Zurich:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Baumgartner lab, University Children's Hospital Zurich:	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: 2025-04-29

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
11	8	0	14	0	0	5	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
Baumgartner lab, University Children's Hospital Zurich		likely pathogenic	uncertain significance
	pathogenic	14	5

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
Counsyl	0	0	0	5	0	0	4	9
Baylor Genetics	0	12	0	4	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	5	0	4	0	0	0	4
Labcorp Genetics (formerly Invitae), Labcorp	0	16	0	3	0	0	0	3
Natera, Inc.	0	7	0	1	0	0	2	3
MGZ Medical Genetics Center	0	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	rs140881518	0.00007
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	rs1481415459	0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	rs398124434	0.00002
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	rs778169806	0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	rs749758687	0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met)	rs200903284	0.00001
NM_052845.4(MMAB):c.422-1G>C	rs2136199436
NM_052845.4(MMAB):c.519+1G>A	rs1592998207
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	rs773059864
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	rs1555274496
NM_052845.4(MMAB):c.569G>A (p.Arg190His)	rs756414548