ClinVar Miner

Variants studied for hyperprolinemia type 1

Included ClinVar conditions (2):
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
27 6 118 128 47 303

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 22 6 115 125 47 292
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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 16 2 107 120 43 288
Fulgent Genetics, Fulgent Genetics 1 3 18 18 3 43
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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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