ClinVar Miner

Variants studied for GM3 synthase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
43 19 193 210 14 459

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
ST3GAL5 37 18 160 174 11 381
LOC129934236, ST3GAL5 6 1 29 32 2 69
LOC129934233, ST3GAL5 0 0 0 4 1 5
ATXN2, LOC130008791 0 0 1 0 0 1
LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, ST3GAL5 0 0 1 0 0 1
POLR1A, ST3GAL5 0 0 1 0 0 1
RORB 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 39 6 147 207 12 411
Illumina Laboratory Services, Illumina 2 0 45 4 4 55
Fulgent Genetics, Fulgent Genetics 1 4 2 0 1 8
Baylor Genetics 1 1 5 0 0 7
Revvity Omics, Revvity 1 4 1 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 6
OMIM 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
3billion 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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