ClinVar Miner

Variants studied for Aspartylglucosaminuria

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
63 79 157 232 29 494

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
AGA 61 72 151 232 29 481
AGA, AGA-DT 2 6 6 0 0 12
LOC130060550, SLC46A1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 51 10 94 222 24 401
Illumina Laboratory Services, Illumina 0 0 53 4 3 60
Natera, Inc. 3 1 26 13 7 50
Baylor Genetics 10 38 0 0 0 48
Counsyl 1 27 3 2 0 33
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 21 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 0 0 0 12
Fulgent Genetics, Fulgent Genetics 3 4 4 1 0 12
OMIM 10 0 0 0 0 10
Genome-Nilou Lab 0 0 4 0 5 9
Revvity Omics, Revvity 2 1 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 2 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 2 3
MyeliNeuroGene Lab, McGill University Health Center Research Institute 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 2
3billion 2 0 0 0 0 2
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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