ClinVar Miner

Variants studied for Familial focal epilepsy with variable foci

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
246 68 980 782 61 2137

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 244 67 978 782 61 2132
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 246 67 979 782 61 2135
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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