ClinVar Miner

Variants in gene MLPH

See also:
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
6 6 78 68 73 212

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 3 3 24 53 73 147
Inborn genetic diseases 0 0 53 7 0 60
MLPH-related disorder 0 0 2 11 8 21
Griscelli syndrome type 3 5 3 4 1 2 14
not specified 0 0 4 5 5 12

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 1 17 47 33 101
Ambry Genetics 0 0 53 7 0 60
GeneDx 0 0 8 0 47 55
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 39 46
PreventionGenetics, part of Exact Sciences 0 0 2 11 8 21
Genetic Services Laboratory, University of Chicago 0 0 4 5 1 10
CeGaT Center for Human Genetics Tuebingen 0 0 2 4 0 6
Clinical Genetics, Academic Medical Center 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 0 0 4
OMIM 3 0 0 0 0 3
Revvity Omics, Revvity 1 1 1 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Institute of Human Genetics, University of Ulm 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.