ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.628C>T (p.Pro210Ser)

dbSNP: rs2112032137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001754550 SCV001994780 likely pathogenic Generalized epilepsy with febrile seizures plus, type 10 2021-10-18 criteria provided, single submitter clinical testing

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