Variants studied for Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome

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	not provided	total
68	55	33	9	3	2	164

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SLC26A4	62	52	27	7	3	2	147
LOC123956210, SLC26A4	6	3	0	0	0	0	9
FOXI1	0	0	6	2	0	0	8

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	58	51	26	9	3	0	147
Juno Genomics, Hangzhou Juno Genomics, Inc	17	2	2	0	0	0	21
Department of Pathology and Laboratory Medicine, Sinai Health System	6	2	6	0	0	0	14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	1	0	0	0	0	2
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Clinical Genomics Laboratory, Stanford Medicine	1	0	0	0	0	0	1
Genomeconnect - The Bow Foundation (GNAO1)	0	0	0	0	0	1	1

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