Variants studied for acrocallosal syndrome

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
53	14	642	496	55	1	1203

Gene and significance breakdown #

Total genes and gene combinations: 4

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
KIF7	48	13	589	437	49	1	1085
KIF7, LOC126862216	5	1	52	58	6	0	116
KIF7, TICRR	0	0	0	1	0	0	1
SHH	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	40	8	572	481	49	0	1150
Illumina Laboratory Services, Illumina	0	0	93	13	28	0	134
Fulgent Genetics, Fulgent Genetics	1	0	15	4	0	0	20
Genome-Nilou Lab	0	0	0	0	12	0	12
OMIM	7	0	0	0	0	0	7
Institute of Medical Genetics, University of Zurich	4	1	1	0	0	0	6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	3	0	0	0	5
UW Hindbrain Malformation Research Program, University of Washington	4	0	0	0	0	0	4
Baylor Genetics	0	1	2	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	1	0	0	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	1	0	0	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	1	0	0	0	0	0	1
3billion	0	0	0	1	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	1	0	0	0	0	1
Dr.Nikuei Genetic Center	0	0	0	1	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.