Variants studied for 2-aminoadipic 2-oxoadipic aciduria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	18	389	254	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	18	374	248	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: 17

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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
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 - Brain Gene Registry	0	0	0	0	0	1	1

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