ClinVar Miner

Variants studied for DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
0 1 3 0 0 1 5

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic uncertain significance not provided total
TBC1D24 1 3 1 5

Submitter and significance breakdown #

Total submitters: 4
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Submitter likely pathogenic uncertain significance not provided total
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 2
Baylor Genetics 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 1 1

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