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
16 7 359 251 151 647

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 3 155 181 116 425
Schwartz Jampel syndrome type 1 9 2 193 40 19 262
Dyssegmental Dysplasia 0 0 184 38 18 240
not specified 0 0 56 43 76 163
Lethal Kniest-like syndrome 3 1 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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 0 156 92 248
Illumina Clinical Services Laboratory,Illumina 0 0 185 38 18 241
Athena Diagnostics Inc 0 1 91 33 54 179
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 37 23 56 116
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 72 17 23 113
GeneDx 3 1 11 2 1 18
OMIM 10 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 4 0 9
Gharavi Laboratory,Columbia University 0 0 7 0 0 7
Mendelics 1 1 0 2 1 5
Fulgent Genetics,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 Genetics 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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