ClinVar Miner

Variants in gene HPSE2

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
17 12 140 50 54 2 259

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 5 27 39 54 0 130
Urofacial syndrome type 1 12 9 76 8 3 2 105
Inborn genetic diseases 0 0 58 0 0 0 58
HPSE2-related disorder 1 0 1 9 0 0 11
Ochoa syndrome 2 0 3 0 0 0 5
Congenital anomaly of kidney and urinary tract 2 0 0 0 0 0 2
not specified 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 4 7 75 8 0 0 94
Labcorp Genetics (formerly Invitae), Labcorp 7 3 23 37 14 0 84
Ambry Genetics 0 0 58 0 0 0 58
GeneDx 0 1 0 0 42 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 15 0 16
PreventionGenetics, part of Exact Sciences 1 0 1 9 0 0 11
OMIM 9 0 0 0 0 0 9
Manchester Centre for Genomic Medicine, The University of Manchester 2 0 3 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 1 0 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Revvity Omics, Revvity 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1

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