ClinVar Miner

Variants in gene RNF113A

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Minimum submission review status: Collection method:
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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 total
3 4 66 21 3 94

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 2 54 20 3 79
not specified 0 0 13 0 0 13
Trichothiodystrophy 5, nonphotosensitive 3 1 5 0 0 8
RNF113A-related disorder 0 0 1 3 0 4
Abnormal cerebral morphology 0 1 0 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 48 20 2 70
Ambry Genetics 0 0 12 0 0 12
GeneDx 0 2 5 0 1 8
PreventionGenetics, part of Exact Sciences 0 0 1 3 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2 4
OMIM 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 1
Clinical Genetics Laboratory, Exon Genomics 0 1 0 0 0 1

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