ClinVar Miner

Variants in gene combination CEP104, LOC126805586

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Minimum submission review status: Collection method:
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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 total
4 5 11 16 10 42

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 1 2 8 9 20
Joubert syndrome 25 1 0 5 6 5 17
Inborn genetic diseases 0 0 5 2 0 7
CEP104-related disorder 0 0 0 5 0 5
not specified 0 0 2 0 1 3
Joubert syndrome 25; Intellectual developmental disorder, autosomal recessive 77 0 2 0 0 0 2
Intellectual developmental disorder, autosomal recessive 77 1 0 0 0 0 1
Joubert syndrome and related disorders 0 1 0 0 0 1
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 2 6 9 17
Labcorp Genetics (formerly Invitae), Labcorp 0 0 5 6 4 15
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 8 10
Ambry Genetics 0 0 5 2 0 7
PreventionGenetics, part of Exact Sciences 0 0 0 5 0 5
CeGaT Center for Human Genetics Tuebingen 0 1 0 3 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 0 0 3
Revvity Omics, Revvity 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 2
OMIM 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Genome-Nilou Lab 0 0 0 0 1 1
DASA 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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