ClinVar Miner

Variants studied for Salla disease

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
77 74 143 266 33 547

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC17A5 67 64 124 230 29 474
LOC129996727, SLC17A5 5 4 15 26 3 49
LOC132089454, SLC17A5 3 6 2 10 1 20
CGAS, DDX43, DPPA5, EEF1A1, KCNQ5, KHDC1, KHDC1L, KHDC3L, MTO1, OOEP, RIMS1, SLC17A5 1 0 0 0 0 1
EEF1A1, MTO1, SLC17A5 0 0 1 0 0 1
LOC129996727, LOC132089448, LOC132089449, LOC132089450, LOC132089451, LOC132089452, LOC132089453, LOC132089454, LOC132089455, LOC132089456, LOC132089457, LOC132089458, SLC17A5 0 0 1 0 0 1
LOC132089454, LOC132089455, LOC132089456, LOC132089457, 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 71 19 82 260 14 446
Illumina Laboratory Services, Illumina 0 0 44 4 10 58
Counsyl 4 32 9 1 0 46
Genome-Nilou Lab 10 7 7 6 14 44
Baylor Genetics 17 25 0 0 0 42
Natera, Inc. 8 3 19 1 9 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 7 0 0 0 14
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 10 0 0 0 10
OMIM 3 0 0 0 0 3
New York Genome Center 2 0 1 0 0 3
Genomic Medicine Lab, University of California San Francisco 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 Genetics, 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1

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