ClinVar Miner

Variants in gene combination HSPG2, LDLRAD2

See also:
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
3 2 91 77 23 174

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 58 68 18 128
Lethal Kniest-like syndrome 1 0 38 7 13 58
Schwartz-Jampel syndrome 0 0 36 7 13 56
Inborn genetic diseases 0 0 16 4 0 20
not specified 0 0 4 6 3 12
Connective tissue disorder 0 0 2 5 1 8
HSPG2-related condition 0 0 0 4 2 6
Schwartz-Jampel syndrome type 1 1 2 2 0 0 5
HSPG2-Related Disorders 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 34 60 13 108
Illumina Laboratory Services, Illumina 0 0 37 7 13 57
Revvity Omics, Revvity 0 0 24 0 0 24
Athena Diagnostics Inc 0 0 7 6 7 20
Ambry Genetics 0 0 16 4 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 4 6 17
GeneDx 0 0 1 4 9 14
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 2 5 1 8
CeGaT Center for Human Genetics Tuebingen 0 0 2 6 0 8
Eurofins Ntd Llc (ga) 0 0 5 2 0 7
PreventionGenetics, part of Exact Sciences 0 0 0 4 2 6
Baylor Genetics 1 0 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 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.