ClinVar Miner

Variants studied for Schwartz-Jampel syndrome

Included ClinVar conditions (2):
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
9 7 335 44 101 491

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HSPG2 9 7 299 37 88 435
HSPG2, LDLRAD2 0 0 36 7 13 56

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 321 43 100 464
OMIM 7 0 0 0 0 7
Baylor Genetics 0 1 4 0 0 5
Mendelics 1 1 0 2 1 5
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Neurology Laboratory,National Cheng Kung University Hospital 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1

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