ClinVar Miner

Variants in gene SLC30A10

See also:
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
5 4 143 101 38 14 283

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 1 0 83 93 35 0 202
Hypermanganesemia with dystonia, polycythemia, and cirrhosis 5 4 34 5 8 14 63
Inborn genetic diseases 0 0 41 4 0 0 45
SLC30A10-related disorder 0 0 0 4 1 0 5
not specified 0 0 3 0 2 0 5
Congenital Erythrocytosis 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 73 70 5 0 148
GeneDx 0 0 12 17 28 0 57
Ambry Genetics 0 0 41 4 0 0 45
Illumina Laboratory Services, Illumina 0 0 31 5 8 0 44
CeGaT Center for Human Genetics Tuebingen 0 0 5 10 0 0 15
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 10 0 15
GeneReviews 0 0 0 0 0 14 14
OMIM 5 0 0 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 0 0 4 1 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
ISCA Site 6 0 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
3billion 0 0 1 0 0 0 1

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