ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro)

dbSNP: rs1057516091
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678136 SCV000484574 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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