ClinVar Miner

Variants studied for ALG6-congenital disorder of glycosylation 1C

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 total
87 100 228 364 29 749

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG6 87 100 225 364 29 746
ALG6, LOC129930665 0 0 2 0 0 2
ALG6, ATG4C, DOCK7, FOXD3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 84 24 179 349 21 657
Illumina Laboratory Services, Illumina 1 0 39 11 8 59
Baylor Genetics 6 49 3 0 0 58
Natera, Inc. 2 3 11 14 9 39
Counsyl 1 17 17 2 0 37
Fulgent Genetics, Fulgent Genetics 2 17 5 4 0 28
Myriad Genetics, Inc. 0 14 1 0 0 15
Genome-Nilou Lab 0 0 0 0 7 7
OMIM 5 0 1 0 0 6
Revvity Omics, Revvity 0 4 2 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 1 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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