Variants from Center for Statistical Genetics, Columbia University with conflicting interpretations

Minimum review status of the submission from Center for Statistical Genetics, Columbia University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Center for Statistical Genetics, Columbia 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: 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
149	27	0	11	0	0	6	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
Center for Statistical Genetics, Columbia University		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	11	6	1
	uncertain significance	1	1	0	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	3	0	0	0	0	4	4
Labcorp Genetics (formerly Invitae), Labcorp	0	6	0	2	0	0	2	4
University of Washington Center for Mendelian Genomics, University of Washington	0	9	0	4	0	0	0	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	1	0	0	1	2
GeneDx	0	0	0	0	0	0	2	2
Baylor Genetics	0	0	0	1	0	0	1	1
Counsyl	0	0	0	1	0	0	0	1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	0	0	0	0	0	1	1
Illumina Laboratory Services, Illumina	0	0	0	0	0	0	1	1
Center for Medical Genetics Ghent, University of Ghent	0	0	0	1	0	0	1	1
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus	0	0	0	1	0	0	1	1
Center for Statistical Genetics, Columbia University	188	1	0	0	0	0	1	1
CeGaT Center for Human Genetics Tuebingen	0	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	1	0	0	0	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	0	0	0	1	1
Raymond Lab, University of Cambridge	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)	rs192378817	0.00016
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)	rs757460257	0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)	rs1562822565	0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	rs80338827	0.00001
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)	rs781790246
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)	rs751242455
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)	rs749465098
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)	rs762118583
NM_173477.5(USH1G):c.854dup (p.Ala286fs)	rs1567939718
Single allele