ClinVar Miner

Variants studied for alpha-mannosidosis

Included ClinVar conditions (1):
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
19 51 96 15 10 170

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 19 51 96 15 10 170

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 6 48 18 2 0 74
Illumina Clinical Services Laboratory,Illumina 2 1 36 10 3 52
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 41 0 0 41
Invitae 1 0 4 3 7 15
Integrated Genetics/Laboratory Corporation of America 7 1 0 0 0 8
OMIM 7 0 0 0 0 7
GeneReviews 5 0 0 0 0 5
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
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 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

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