ClinVar Miner

Variants studied for Familial focal epilepsy with variable foci

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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
236 61 908 712 61 1978

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 total
DEPDC5 234 60 906 712 61 1973
DEPDC5, PRR14L 2 0 0 0 0 2
APP 0 0 1 0 0 1
DEPDC5, LOC125446219 0 0 1 0 0 1
NPRL2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 236 60 907 712 61 1976
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 1

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