ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.336C>A (p.Arg112=) (rs794726951)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173512 SCV000224632 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
Invitae RCV000636559 SCV000757998 likely benign Early infantile epileptic encephalopathy 2017-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715891 SCV000846723 likely benign History of neurodevelopmental disorder 2016-05-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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