ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5

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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
16 3 242 166 58 482

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNT1 16 3 241 166 58 481
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 3 238 166 58 480
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Baylor Genetics 2 0 0 0 0 2

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