ClinVar Miner

Variants studied for Hypophosphatasia

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 not provided total
83 115 83 28 29 12 324

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALPL 82 115 83 28 29 12 323
OCA2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JKU Lab, Dept of Paediatrics, Johannes Kepler University 13 72 28 5 2 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 61 36 0 0 0 0 97
Natera, Inc. 26 4 32 13 12 0 87
Illumina Laboratory Services, Illumina 5 1 25 15 25 0 71
GeneReviews 0 0 0 0 0 8 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 5 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 3 1 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Baylor Genetics 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1

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