ClinVar Miner

Variants in gene PTRH2

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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
3 7 18 16 3 1 42

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 0 0 13 1 0 0 14
not provided 1 4 3 5 2 1 14
not specified 0 0 0 11 0 0 11
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 3 1 2 0 0 0 6
PTRH2-related disorder 0 0 0 2 1 0 3
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 1 0 0 0 0 2
Cerebellar ataxia; Global developmental delay; Hearing impairment 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 4 1 12 1 0 18
Ambry Genetics 0 0 13 1 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 0 0 4
OMIM 3 0 0 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 2 1 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 2 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 1 0 2
Baylor Genetics 1 0 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 1

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