ClinVar Miner

Variants studied for disorder of beta and omega amino acid metabolism

Included ClinVar conditions (2):
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
24 26 323 292 70 2 705

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABAT 23 26 314 292 70 1 694
ABAT, PMM2, TMEM186 1 0 6 0 0 1 8
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 9 237 276 30 0 559
Illumina Laboratory Services, Illumina 0 0 90 13 50 0 153
Baylor Genetics 1 13 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 9 0 9
OMIM 8 0 0 0 0 0 8
Elsea Laboratory, Baylor College of Medicine 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 3 0 0 6
Bonnen Lab, Baylor College of Medicine 5 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 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. 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.