ClinVar Miner

Variants studied for Proline dehydrogenase deficiency

Coded as:
Minimum submission review status: Collection method:
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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
28 4 118 130 47 312

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRODH 23 4 115 127 47 301
HSERVPRODH, PRODH 2 0 2 3 0 7
DGCR6, PRODH 1 0 1 0 0 2
DGCR5, DGCR6, HSERVPRODH, LOC122455341, PRODH 1 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 18 2 108 129 44 301
Genome-Nilou Lab 0 0 0 0 10 10
OMIM 9 0 0 0 0 9
Revvity Omics, Revvity 0 0 9 0 0 9
MGZ Medical Genetics Center 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1

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