Variants in gene combination DEAF1, LOC126861109

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
5	4	59	29	9	103

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	5	3	55	27	9	96
Inborn genetic diseases	0	0	8	1	0	9
not specified	0	0	3	2	1	6
DEAF1-related disorder	0	1	0	2	1	4
Intellectual disability, autosomal dominant 24	0	0	1	0	3	4
Intellectual disability-epilepsy-extrapyramidal syndrome	0	1	0	0	3	4
Intellectual disability	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	5	2	46	27	6	86
GeneDx	0	1	8	0	2	11
Ambry Genetics	0	0	8	1	0	9
Breakthrough Genomics, Breakthrough Genomics	0	0	1	1	6	8
PreventionGenetics, part of Exact Sciences	0	1	0	2	1	4
Genetic Services Laboratory, University of Chicago	0	0	1	2	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Athena Diagnostics	0	0	0	0	2	2
Revvity Omics, Revvity	0	0	2	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Eurofins Ntd Llc (ga)	0	0	1	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	0	0	1	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	1	0	0	1

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