ClinVar Miner

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

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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
25 12 27 9 3 1 77

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 24 11 18 7 3 1 64
FOXI1 0 0 9 2 0 0 11
LOC123956210, SLC26A4 1 1 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 24 11 27 9 3 0 74
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

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