ClinVar Miner

Variants studied for ALG9-congenital disorder of glycosylation

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
50 32 310 363 64 809

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP6V0A2 31 8 143 232 37 451
ALG9 12 20 146 88 23 280
ATP6V0A2, LOC130009117 2 1 5 23 1 32
ATP6V0A2, LOC126861666 2 0 6 12 2 22
ALG9, LOC130006752 2 2 9 8 1 21
ALG10 0 1 0 0 0 1
ALG9, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HSPB2 1 0 0 0 0 1
ATP6V0A2, TCTN2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 45 12 209 355 62 683
Fulgent Genetics, Fulgent Genetics 0 16 42 11 1 70
Illumina Laboratory Services, Illumina 0 0 57 4 2 63
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 3
New York Genome Center 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 2 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 0 0 0 2
Medical Molecular Genetics, National Research Centre 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1

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