ClinVar Miner

Variants in gene ENTPD1

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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
12 8 102 86 25 1 222

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary spastic paraplegia 64 11 6 60 70 9 1 155
not provided 2 1 17 18 21 0 58
Inborn genetic diseases 0 0 34 2 0 0 36
Hereditary spastic paraplegia 0 0 18 2 1 0 21
ENTPD1-related disorder 0 1 1 2 1 0 5
Global developmental delay; Polymicrogyria; Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 57 73 9 0 142
Ambry Genetics 0 0 34 2 0 0 36
GeneDx 1 1 5 4 21 0 32
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 18 2 1 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 3 5 13 0 21
CeGaT Center for Human Genetics Tuebingen 1 0 6 9 0 0 16
OMIM 5 0 0 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 1 1 2 1 0 5
3billion 2 2 1 0 0 0 5
Mendelics 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 0 0 1 0 0 0 1
Dr Sami Ulus Medical Genetics Department, Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 1

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