ClinVar Miner

Variants studied for mandibular hypoplasia-deafness-progeroid syndrome

Included ClinVar conditions (5):
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
2 2 122 35 12 12 178

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POLD1 2 2 122 35 12 12 178

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 97 10 0 0 107
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 21 26 3 0 50
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Genome-Nilou Lab 0 0 0 0 9 0 9
Baylor Genetics 0 0 6 0 0 0 6
Revvity Omics, Revvity 1 0 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1

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