ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala) (rs560701504)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558459 SCV000633999 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720445 SCV000851322 likely benign History of neurodevelopmental disorder 2018-04-20 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)

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