ClinVar Miner

Variants studied for COG7 congenital disorder of glycosylation

Coded as:
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
20 10 201 238 27 2 464

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COG7 17 9 188 224 27 2 434
COG7, LOC130058658 2 1 12 14 0 0 28
CEP290 1 0 0 0 0 0 1
COG7, EARS2, GGA2, NDUFAB1, PALB2, SCNN1B, SCNN1G, UBFD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 13 6 157 232 25 0 433
Illumina Laboratory Services, Illumina 0 0 47 6 4 0 57
Baylor Genetics 0 0 10 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 5 3 1 0 9
Revvity Omics, Revvity 0 0 4 0 0 0 4
OMIM 2 0 0 0 0 0 2
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Research Laboratories, P. D. Hinduja Hospital & MRC 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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