ClinVar Miner

Variants studied for Vertebral, cardiac, renal, and limb defects syndrome 1

Coded as:
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 total
7 2 4 0 5 17

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
HAAO 6 1 3 5 14
HAAO, LOC129933588 1 1 0 0 2
NADSYN1 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 7 0 0 0 7
Genome-Nilou Lab 0 0 0 5 5
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 2
SIB Swiss Institute of Bioinformatics 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 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.