ClinVar Miner

Variants in gene combination ALG11, ATP7B

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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
0 0 1 1 2 2

Condition and significance breakdown #

Total conditions: 5
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Condition uncertain significance likely benign benign total
Congenital disorder of glycosylation 0 0 2 2
Wilson disease 1 1 2 2
not specified 0 0 2 2
ALG11-congenital disorder of glycosylation 0 0 1 1
not provided 1 0 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2
GeneDx 0 0 2 2
Invitae 0 0 2 2
Natera, Inc. 1 0 1 2
Illumina Laboratory Services, Illumina 0 1 2 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1
Genome-Nilou Lab 0 0 1 1

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