ClinVar Miner

Variants studied for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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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 not provided total
38 14 1227 1343 188 2 2806

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RELN 32 13 964 1030 151 2 2187
RELN, SLC26A5 4 1 210 232 25 0 471
LOC126860130, RELN, SLC26A5 1 0 36 48 7 0 92
LOC126860131, RELN 0 0 16 33 5 0 54
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 14 1220 1343 188 0 2803
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
New York Genome Center 0 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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