ClinVar Miner

Variants studied for Salla disease

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
30 49 73 46 14 186

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
SLC17A5 29 49 73 46 14 185
CGAS, DDX43, DPPA5, EEF1A1, KCNQ5, KHDC1, KHDC1L, KHDC3L, MTO1, OOEP, RIMS1, SLC17A5 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
Invitae 26 7 11 41 3 88
Illumina Clinical Services Laboratory,Illumina 0 0 44 4 10 58
Counsyl 4 32 9 1 0 46
Natera, Inc. 7 0 14 1 6 28
Integrated Genetics/Laboratory Corporation of America 5 5 0 0 0 10
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 10 0 0 0 10
Baylor Genetics 4 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 4
OMIM 3 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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