Variants studied for Autosomal dominant auditory neuropathy 1

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
3	0	12	2	4	20

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
DIAPH3	3	12	2	4	20

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Revvity Omics, Revvity	0	4	0	0	4
OMIM	2	0	0	0	2
Mendelics	0	0	1	1	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	2
Genome-Nilou Lab	0	0	0	2	2
Institute of Human Genetics, University of Goettingen	0	1	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	1
Hereditary Hearing Loss Research Unit, University of Madras	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	1

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