ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) (rs56164833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462927 SCV000541530 benign Early infantile epileptic encephalopathy 2019-12-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513246 SCV000609160 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720793 SCV000851676 likely benign History of neurodevelopmental disorder 2018-06-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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