ClinVar Miner

Variants studied for inborn disorder of serine family metabolism

Included ClinVar conditions (14):
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 affects not provided total
569 498 1549 2296 168 4 10 4694

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
GLDC 332 318 667 1138 65 0 4 2295
PHGDH 79 40 257 455 24 0 0 800
AMT 79 92 191 326 13 0 3 626
PSAT1 33 9 151 138 16 0 0 333
SLC6A9 6 3 94 138 16 0 3 256
PSPH 3 2 87 50 20 0 0 158
AMT, NICN1 15 10 37 26 2 0 0 78
GCSH 4 1 21 11 6 0 0 42
GCSH, LOC130059495 0 1 19 9 4 0 0 32
SLC1A4 10 10 9 0 1 0 0 28
PCDH19 0 10 1 0 0 0 0 11
SARDH 0 1 3 1 1 4 0 10
GLDC, LOC113839554, LOC126860573, LOC130001537 3 0 0 0 0 0 0 3
GLDC, LOC130001539 0 0 2 1 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 3
LOC129998495, PSPH 0 0 3 0 0 0 0 3
CCT6A, CHCHD2, PHKG1, PSPH, SUMF2 0 0 2 0 0 0 0 2
GLDC, LOC130001538 1 0 1 0 0 0 0 2
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 0 0 1
AMT, GPX1, NICN1, RHOA, TCTA 0 0 1 0 0 0 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545 0 0 1 0 0 0 0 1
GLDC, LOC113839554, LOC126860573, LOC130001537, LOC130001538 1 0 0 0 0 0 0 1
GLDC, LOC113839554, LOC130001537, LOC130001538 0 0 1 0 0 0 0 1
GLDC, LOC130001537 1 0 0 0 0 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 0 0 1
LINC02245, SLC1A4 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 512 140 1197 2227 117 0 0 4193
Natera, Inc. 35 5 195 63 41 0 0 339
Illumina Laboratory Services, Illumina 3 0 229 44 59 0 0 335
Counsyl 11 60 70 4 0 0 0 145
Fulgent Genetics, Fulgent Genetics 28 78 30 6 3 0 0 145
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 0 0 96
Genome-Nilou Lab 0 11 32 8 29 0 0 80
Baylor Genetics 21 31 19 0 0 0 0 71
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 43 26 0 0 0 0 0 69
Myriad Genetics, Inc. 2 56 4 0 0 0 0 62
OMIM 55 0 1 0 0 4 0 60
Revvity Omics, Revvity 13 17 12 0 0 0 0 42
Mendelics 7 6 1 4 1 0 0 19
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 9 0 0 0 0 17
3billion, Medical Genetics 3 3 8 2 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 1 5 6 0 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 4 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 7 0 0 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 4 0 0 0 0 10
GeneReviews 2 0 0 0 0 0 7 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 2 5 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 2 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 2 0 0 0 0 0 7
New York Genome Center 1 2 4 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 3 0 1 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 0 0 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 2 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 2 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 0 3
Ege University Pediatric Genetics, Ege University 1 0 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 3 0 0 0 0 0 3
Suma Genomics 0 2 1 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 2
Fatma Al Jasmi Lab, United Arab Emirates University 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1

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