Variants from ClinGen Hearing Loss Variant Curation Expert Panel

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
51	48	47	28	27	201

Gene and significance breakdown #

Total genes and gene combinations: 15

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
USH2A	14	9	10	7	5	45
GJB2	13	7	10	0	0	30
MYO7A	3	13	9	2	2	29
SLC26A4	6	7	4	4	5	26
CDH23	3	1	9	1	2	16
MYO15A	4	4	1	3	2	14
OTOF	2	4	2	2	2	12
TBCEL-TECTA, TECTA	1	0	0	7	2	10
COCH, LOC100506071	1	0	1	0	3	5
MYO6	1	1	0	1	2	5
KCNQ4	2	1	0	1	0	4
C10orf105, CDH23	0	0	1	0	1	2
LOC112840921, OTOF	1	0	0	0	0	1
LOC122152296, USH2A	0	0	0	0	1	1
LOC123956210, SLC26A4	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 9

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Nonsyndromic genetic hearing loss	27	19	18	15	15	94
Usher syndrome	16	16	24	10	7	73
Pendred syndrome	6	8	4	3	5	26
Autosomal recessive nonsyndromic hearing loss 9	0	2	0	0	0	2
Retinal dystrophy	1	1	0	0	0	2
Sensorineural hearing loss disorder	1	0	0	0	0	1
Usher syndrome type 1	0	1	0	0	0	1
Usher syndrome type 1B	0	1	0	0	0	1
not specified	0	0	1	0	0	1

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