ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro)

dbSNP: rs2145921196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) RCV002254143 SCV002524122 likely pathogenic Seizures, benign familial neonatal, 1 2021-10-05 no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315371 SCV004015046 not provided Complex neurodevelopmental disorder no assertion provided literature only

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