ClinVar Miner

Variants studied for ALG12-congenital disorder of glycosylation

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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
31 18 219 236 33 1 502

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALG12 29 18 216 236 32 0 495
ALG12, LOC130067776 0 0 2 0 1 0 3
ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 0 0 1 0 0 0 1
ADM2, ALG12, ARSA, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP 1 0 0 0 0 0 1
ALG1 0 0 0 0 0 1 1
AP4E1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 7 175 230 28 0 462
Illumina Laboratory Services, Illumina 0 0 54 6 11 0 71
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 6 3 0 0 0 9
Revvity Omics, Revvity 0 2 3 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 0 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1

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