ClinVar Miner

Variants studied for 2-aminoadipic 2-oxoadipic aciduria

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 not provided total
50 26 486 331 38 1 923

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHTKD1 49 26 471 321 38 1 897
DHTKD1, LOC130003343 1 0 14 10 0 0 25
DHTKD1, LOC130003342, LOC130003343, LOC130003344, LOC130003345 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 46 14 482 330 35 0 907
Baylor Genetics 1 1 7 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 1 0 0 0 0 9
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 4 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 1 1 1 0 0 3
OMIM 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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