ClinVar Miner

Variants in gene combination CARD14, SGSH

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Minimum submission review status: Collection method:
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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
1 1 193 141 50 5 360

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pityriasis rubra pilaris; Psoriasis 2 0 0 167 120 27 1 311
not provided 1 0 6 15 39 3 60
Autoinflammatory syndrome 0 0 12 14 10 0 36
Inborn genetic diseases 1 0 30 4 0 0 35
CARD14-related disorder 0 0 1 5 5 0 11
Pityriasis rubra pilaris 0 0 3 0 6 0 8
not specified 0 0 0 1 7 0 8
Psoriasis 2 0 0 0 0 6 0 6
Mucopolysaccharidosis 0 0 0 0 0 1 1
Mucopolysaccharidosis, MPS-III-A 1 1 0 0 0 0 1
Neurodegeneration 1 0 0 0 0 0 1
SGSH-related disorder 1 0 0 0 0 0 1
Sanfilippo syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 165 118 27 0 311
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 12 14 10 0 36
GeneDx 1 0 3 4 28 0 36
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 33 0 36
Ambry Genetics 1 0 30 4 0 0 35
CeGaT Center for Human Genetics Tuebingen 1 0 0 10 2 0 13
PreventionGenetics, part of Exact Sciences 1 0 1 5 5 0 12
Genome-Nilou Lab 1 0 0 0 6 0 7
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 6 0 6
Fulgent Genetics, Fulgent Genetics 1 0 1 2 1 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 3 3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Natera, Inc. 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 0 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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