ClinVar Miner

Variants studied for pseudohypoparathyroidism type 1B

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
17 4 95 39 56 205

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
STX16, STX16-NPEPL1 2 0 64 6 53 123
GNAS 14 4 30 33 3 80
GHSR 0 0 1 0 0 1
STX16 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 63 2 53 119
Fulgent Genetics, Fulgent Genetics 7 0 10 37 2 56
New York Genome Center 1 1 11 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 1 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 3 0 0 6
OMIM 4 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Department of Neurology, The First Affiliated Hospital of Guangdong Pharmaceutical University 0 0 1 0 0 1

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