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
24 52 103 15 10 183

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 24 52 103 15 10 183

Submitter and significance breakdown #

Total submitters: 14
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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 8 2 11 3 7 31
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
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
Baylor Genetics 1 0 1 0 0 2
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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