ClinVar Miner

Variants studied for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 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 total
13 8 237 72 43 373

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCN1A, SCN9A 10 7 201 54 40 312
SCN9A 2 1 36 18 3 60
LOC102724058, SCN1A, SCN9A, TTC21B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 8 237 72 43 373

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