ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3195C>A (p.Val1065=) (rs4493011)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865242 SCV001006177 likely benign Brugada syndrome 8 2020-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001575483 SCV001802487 uncertain significance not provided 2019-12-09 no assertion criteria provided clinical testing Reported in a Chinese individual with sudden unexplained nocturnal death syndrome (Wu et al., 2018); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30452770)

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