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:
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
38 20 389 255 37 1 731

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 37 20 374 249 37 1 709
DHTKD1, LOC130003343 1 0 14 6 0 0 21
DHTKD1, LOC130003342, LOC130003343, LOC130003344, LOC130003345 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 10 386 254 34 0 719
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 3 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
OMIM 3 0 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 1 1 1 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mendelics 0 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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