ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.507_514+10del

dbSNP: rs2081377258
Minimum review status: Collection method:
Minimum conflict level:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001254916 SCV001423588 pathogenic Seizures, benign familial neonatal, 1 criteria provided, single submitter clinical testing

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