ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)

dbSNP: rs2145712576
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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 RCV001391231 SCV001593153 likely pathogenic Seizures, benign familial neonatal, 1 2021-07-16 no assertion criteria provided clinical testing We have found this variant in two unrelated patients with BFNE.

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