ClinVar Miner

Variants in gene HSPG2

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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 total
13 4 332 93 78 455

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Schwartz Jampel syndrome type 1 7 1 192 38 18 256
Dyssegmental Dysplasia 0 0 184 38 18 240
not provided 3 2 133 26 29 188
not specified 0 0 42 35 39 106
Lethal Kniest-like syndrome 4 0 2 0 0 6
Lethal Kniest-like syndrome; Schwartz Jampel syndrome type 1 0 0 5 0 0 5
Childhood-Onset Schizophrenia 0 1 0 0 0 1
HSPG2-Related Disorders 0 0 1 0 0 1
Reduced muscle fiber perlecan 0 0 1 0 0 1
Stuve-Wiedemann syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 185 38 18 241
Athena Diagnostics Inc 0 1 73 27 19 120
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 72 17 23 113
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 23 15 31 69
GeneDx 2 1 11 2 0 16
OMIM 10 0 0 0 0 10
Gharavi Laboratory,Columbia University 0 0 7 0 0 7
Fulgent Genetics 0 0 5 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 1 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 1
Dr. Guy Rouleau's laboratory,McGill University 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1

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