ClinVar Miner

Variants in gene DOCK7

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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 total
10 6 128 35 17 192

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 23 9 1 122 31 16 179
not provided 0 4 7 4 7 21
not specified 0 0 3 0 2 5
Inborn genetic diseases 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 122 31 16 175
Athena Diagnostics Inc 0 0 3 3 6 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 4 1 2 8
OMIM 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 1 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 2
Ambry Genetics 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1

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