ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) (rs372300407)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461165 SCV000562880 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618105 SCV000737421 likely benign Cardiovascular phenotype 2017-07-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093116 SCV001249943 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing

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