ClinVar Miner

Variants in gene CNTN1

Minimum submission review status: Collection method:
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Gene type:
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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
6 2 129 98 53 277

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Myopathy, congenital, compton-north 6 1 120 47 16 190
not provided 0 1 12 38 33 84
not specified 0 0 6 27 15 42

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 119 60 15 200
GeneDx 0 1 11 32 44 88
PreventionGenetics, PreventionGenetics 0 0 0 7 14 21
Genetic Services Laboratory, University of Chicago 0 0 5 6 3 14
Athena Diagnostics Inc 0 0 1 0 5 6
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 1

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