Variants from Laboratory of Molecular Genetics, Children's Memorial Health Institute with conflicting interpretations

Minimum review status of the submission from Laboratory of Molecular Genetics, Children's Memorial Health Institute:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Laboratory of Molecular Genetics, Children's Memorial Health 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
7	2	0	8	0	0	3	10

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
Laboratory of Molecular Genetics, Children's Memorial Health Institute		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	4	0
	likely pathogenic	4	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	6	0	5	0	0	1	6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	3	0	4	0	0	0	4
Counsyl	0	0	0	1	0	0	2	3
Baylor Genetics	0	4	0	2	0	0	0	2
Natera, Inc.	0	3	0	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1	2
Illumina Laboratory Services, Illumina	0	1	0	1	0	0	1	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	1	0	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	0	1	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	1	0	1	0	0	0	1
Myriad Genetics, Inc.	0	2	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	1	0	1	0	0	0	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	2	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)	rs794727759	0.00001
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	rs769559267
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)	rs1320401077
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.390+1G>A	rs752327566
NM_138694.4(PKHD1):c.880+1G>A	rs1582064292
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	rs1554218666