ClinVar Miner

Variants studied for neurometabolic disorder due to serine deficiency

Included ClinVar conditions (8):
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
124 47 507 598 61 1270

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHGDH 79 28 256 430 24 769
PSAT1 30 8 150 117 16 308
PSPH 3 1 86 48 20 154
SLC1A4 10 9 9 0 1 27
HMGCS2, PHGDH 0 0 0 3 0 3
LOC129998495, PSPH 0 0 3 0 0 3
CCT6A, CHCHD2, PHKG1, PSPH, SUMF2 0 0 2 0 0 2
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 1
LINC02245, SLC1A4 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 90 21 379 568 30 1088
Illumina Laboratory Services, Illumina 0 0 117 18 34 169
Genome-Nilou Lab 0 10 31 7 15 63
Natera, Inc. 1 1 20 21 6 49
OMIM 33 0 0 0 0 33
Baylor Genetics 1 1 9 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 3 0 0 8
Mendelics 1 2 1 2 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 2 0 0 6
Revvity Omics, Revvity 0 1 4 0 0 5
Fulgent Genetics, Fulgent Genetics 1 1 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Counsyl 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 2
3billion 0 1 0 1 0 2
Fatma Al Jasmi Lab, United Arab Emirates University 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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