ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1656C>T (p.His552=) (rs148142070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621193 SCV000736458 likely benign Cardiovascular phenotype 2016-12-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000647276 SCV000769065 likely benign Brugada syndrome 8 2020-09-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289447 SCV001477266 benign not specified 2020-08-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529121 SCV001742047 likely benign not provided no assertion criteria provided clinical testing

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