ClinVar Miner

Variants studied for Spongy degeneration of central nervous system

Coded as:
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
25 45 32 5 3 93

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ASPA, SPATA22 21 45 32 5 3 89
ASPA 3 0 0 0 0 3
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 1 37 16 0 0 54
Invitae 12 1 4 4 3 24
Illumina Clinical Services Laboratory,Illumina 3 2 10 1 0 16
Baylor Genetics 6 7 0 0 0 13
OMIM 11 0 0 0 0 11
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 1 0 1 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Genomics For Life 0 1 0 0 0 1
Natera Inc 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 1

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