ClinVar Miner

Variants studied for Deficiency of alpha-mannosidase

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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
50 65 161 66 29 318

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MAN2B1 50 65 161 66 29 318

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 8 31 58 24 154
Illumina Clinical Services Laboratory,Illumina 2 1 81 7 18 109
Counsyl 5 48 18 2 0 73
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 41 0 0 41
Integrated Genetics/Laboratory Corporation of America 11 3 0 0 0 14
OMIM 7 0 0 0 0 7
Baylor Genetics 3 1 1 0 0 5
GeneReviews 5 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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