ClinVar Miner

Variants in gene SLC35A1

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Minimum submission review status: Collection method:
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Gene type:
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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 risk factor total
5 3 41 45 19 1 106

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SLC35A1-congenital disorder of glycosylation 5 3 18 26 6 0 55
not provided 0 0 6 17 13 0 34
Inborn genetic diseases 0 0 17 0 0 0 17
not specified 0 0 0 9 4 0 13
SLC35A1-related disorder 0 0 1 5 1 0 7
Congenital disorder of glycosylation 0 0 4 0 0 0 4
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 14 30 5 0 49
GeneDx 0 0 2 18 15 0 35
Ambry Genetics 0 0 17 0 0 0 17
Breakthrough Genomics, Breakthrough Genomics 0 0 1 7 0 0 8
PreventionGenetics, part of Exact Sciences 0 0 1 5 1 0 7
OMIM 5 0 0 0 0 1 6
Eurofins Ntd Llc (ga) 0 0 2 0 2 0 4
Illumina Laboratory Services, Illumina 0 0 4 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 1 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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