ClinVar Miner

Variants in gene SLC7A7

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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 not provided total
95 103 287 372 49 9 824

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Lysinuric protein intolerance 95 100 245 343 22 4 738
not provided 3 5 21 27 39 5 92
Inborn genetic diseases 0 0 42 3 0 0 45
not specified 0 0 15 19 12 0 45
Autoinflammatory syndrome 1 0 11 2 2 0 16
SLC7A7-related disorder 1 2 5 8 0 0 16

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 85 11 171 333 15 0 615
Fulgent Genetics, Fulgent Genetics 9 26 72 20 0 0 127
GeneDx 1 4 13 36 40 0 94
Natera, Inc. 5 2 48 10 5 0 70
Baylor Genetics 22 36 1 0 0 0 59
Illumina Laboratory Services, Illumina 0 0 42 7 10 0 59
Ambry Genetics 0 0 42 3 0 0 45
Genome-Nilou Lab 7 0 13 9 12 0 41
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 38 0 0 0 0 38
Breakthrough Genomics, Breakthrough Genomics 0 1 2 5 24 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 14 3 1 0 26
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 11 2 2 0 16
PreventionGenetics, part of Exact Sciences 1 2 5 8 0 0 16
OMIM 9 0 0 0 0 0 9
CeGaT Center for Human Genetics Tuebingen 1 0 1 6 1 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 8 0 8
Clinical Genetics, Academic Medical Center 0 0 0 1 5 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 4 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 4 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 4 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 3 1 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Revvity Omics, Revvity 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
3billion 1 0 0 0 0 0 1

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