ClinVar Miner

Variants studied for Familial encephalopathy with neuroserpin inclusion bodies

Coded as:
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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
6 0 207 114 25 346

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SERPINI1 6 204 113 23 340
PDCD10, SERPINI1 0 3 1 1 5
LOC129937857, PDCD10, SERPINI1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 193 111 19 325
Illumina Laboratory Services, Illumina 0 14 3 18 35
OMIM 5 0 0 0 5
Revvity Omics, Revvity 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 2 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 2
Mendelics 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
New York Genome Center 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 1

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