ClinVar Miner

Variants in gene combination CARD14, SGSH

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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 not provided total
1 0 84 41 31 3 154

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign not provided total
Pityriasis rubra pilaris; Psoriasis susceptibility 2 0 80 38 31 0 149
not provided 1 5 4 0 3 13
not specified 0 0 1 3 0 4
Inborn genetic diseases 1 0 0 0 0 1
Mucopolysaccharidosis 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 0 1
Sanfilippo syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 1 80 38 31 0 150
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 3 0 4
Mayo Clinic Laboratories, Mayo Clinic 1 3 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 3 3
GeneDx 1 1 0 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Natera, Inc. 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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