ClinVar Miner

Variants studied for ALG12-congenital disorder of glycosylation

Included ClinVar conditions (1):
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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
27 12 218 213 33 1 473

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 25 12 215 213 32 0 466
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, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, 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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 6 174 207 28 0 434
Illumina Laboratory Services, Illumina 0 0 54 6 11 0 71
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 0 2 3 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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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