ClinVar Miner

Variants in gene SRD5A3

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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
15 15 132 63 32 239

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
SRD5A3-congenital disorder of glycosylation 10 4 91 40 18 158
not provided 5 5 23 21 23 76
Inborn genetic diseases 1 0 27 1 0 29
Congenital disorder of glycosylation 0 4 9 1 1 15
not specified 0 0 3 7 2 12
SRD5A3-related disorder 1 1 0 4 0 6
Kahrizi syndrome 3 1 0 0 0 4
SRD5A3-congenital disorder of glycosylation; Kahrizi syndrome 0 1 3 0 0 4
Abnormality of the nervous system 2 1 0 0 0 3
Abnormal optic nerve morphology 1 0 0 0 0 1
Autism; Global developmental delay; Cone dystrophy 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
Low-set ears; Hemangioma; Generalized hypotonia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 68 4 16 88
Labcorp Genetics (formerly Invitae), Labcorp 4 1 31 39 4 79
GeneDx 3 5 12 23 17 60
Ambry Genetics 1 0 27 1 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 6 3 13 22
OMIM 6 0 0 0 0 6
PreventionGenetics, part of Exact Sciences 0 1 0 4 0 5
Eurofins Ntd Llc (ga) 3 0 2 0 0 5
CeGaT Center for Human Genetics Tuebingen 1 0 2 2 0 5
Genetic Services Laboratory, University of Chicago 0 0 3 1 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 0 0 0 3
Revvity Omics, Revvity 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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