ClinVar Miner

Variants studied for precocious puberty

Included ClinVar conditions (10):
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
19 8 38 11 30 105

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LHCGR, STON1-GTF2A1L 11 3 27 9 30 79
MKRN3 6 1 2 0 0 9
KISS1R 1 2 1 2 0 6
DLK1 0 1 1 0 0 2
OFD1 0 0 2 0 0 2
CDON 0 0 1 0 0 1
KDM6A 0 0 1 0 0 1
LEPR 0 0 1 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 1
PNPLA6 0 0 1 0 0 1
RAB11A 0 1 0 0 0 1
VAV1 0 0 1 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 0 0 24 8 30 62
OMIM 17 0 0 0 0 17
Fulgent Genetics, Fulgent Genetics 1 1 1 2 1 6
Human Developmental Genetics, Institut Pasteur 0 0 6 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 1 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Istanbul Faculty of Medicine, Istanbul University 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
National Institute for Research in Reproductive and Child Health, Indian Council of Medical Research 0 1 0 0 0 1

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