ClinVar Miner

Variants studied for ALG6-congenital disorder of glycosylation 1C

Coded as:
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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
82 82 224 349 28 712

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG6 82 82 222 349 28 710
ALG6, LOC129930665 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 80 20 175 334 20 629
Illumina Laboratory Services, Illumina 1 0 41 11 8 61
Baylor Genetics 5 45 3 0 0 53
Natera, Inc. 2 3 11 14 9 39
Counsyl 1 17 17 2 0 37
Myriad Genetics, Inc. 0 14 1 0 0 15
Fulgent Genetics, Fulgent Genetics 2 1 5 4 0 12
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 2 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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