Variants from Laboratory of Prof. Karen Avraham, Tel Aviv University with conflicting interpretations

Minimum review status of the submission from Laboratory of Prof. Karen Avraham, Tel Aviv University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Laboratory of Prof. Karen Avraham, Tel Aviv University:	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
70	10	0	7	0	1	5	11

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 Prof. Karen Avraham, Tel Aviv University		likely pathogenic	uncertain significance	other
	pathogenic	7	5	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
Illumina Laboratory Services, Illumina	0	1	0	2	0	0	3	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	0	2	0	0	0	2
Baylor Genetics	0	3	0	1	0	0	0	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	0	1	0	0	0	1
Counsyl	0	1	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	0	1	0	0	0	1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	0	0	0	0	1	0	1
Molecular Diagnosis Center for Deafness	0	1	0	0	0	0	1	1
3billion	0	1	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	rs200672755	0.00016
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)	rs184435771	0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)	rs372466080	0.00011
NM_005422.4(TECTA):c.248C>T (p.Thr83Met)	rs145898158	0.00009
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)	rs376351191	0.00007
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)	rs201067821	0.00002
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)	rs886040861
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)	rs1553704097
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	rs75949023