ClinVar Miner

Variants studied for Hartnup disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
7 28 134 30 9 205

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC6A19 7 28 134 30 9 205

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 4 20 123 30 1 178
Genome-Nilou Lab 0 0 0 0 8 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 4 1 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 7
OMIM 6 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 1 3
Revvity Omics, Revvity 2 0 1 0 0 3
Dasa 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
3billion 0 0 1 0 0 1
Baylor Genetics 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.