Variants from Centre for Human Genetics with conflicting interpretations

Minimum review status of the submission from Centre for Human Genetics:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Centre for Human Genetics:	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
25	13	0	13	0	0	3	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
Centre for Human Genetics		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	9	2
	likely pathogenic	4	0	0
	benign	0	1	0

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
Baylor Genetics	0	7	0	5	0	0	0	5
Invitae	0	10	0	3	0	0	2	5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	4	0	0	0	4
Genome-Nilou Lab	0	8	0	3	0	0	0	3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	2	0	2	0	0	1	3
Revvity Omics, Revvity	0	2	0	2	0	0	0	2
Counsyl	0	4	0	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2	0	2	0	0	0	2
Natera, Inc.	0	3	0	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	2	0	2	0	0	0	2
Myriad Genetics, Inc.	0	1	0	1	0	0	0	1
3billion	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)	rs767427889	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.1735+1G>T	rs199922945	0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)	rs764236940	0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	rs193302880	0.00001
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)	rs1601781024
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	rs2053339231
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	rs777871903
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)	rs762602838
NM_000642.3(AGL):c.947_948del (p.Leu316fs)	rs1650934988
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)	rs1592107594
NM_001353214.3(DYM):c.1728+2T>C	rs2087482291