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 not provided total
15 5 240 281 80 3 602

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Compton-North congenital myopathy 15 4 215 220 28 3 482
not provided 0 1 21 58 56 0 134
not specified 0 0 6 23 15 0 39
Inborn genetic diseases 0 0 27 0 0 0 27

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 4 214 225 27 0 484
GeneDx 0 1 18 61 67 0 147
Ambry Genetics 0 0 27 0 0 0 27
Preventiongenetics, part of Exact Sciences 0 0 0 7 14 0 21
Genetic Services Laboratory, University of Chicago 0 0 5 6 3 0 14
CeGaT Center for Human Genetics Tuebingen 0 0 0 7 1 0 8
Athena Diagnostics Inc 0 0 1 0 5 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Revvity Omics, Revvity Omics 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1

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