ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) (rs200507617)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171641 SCV000050771 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000469725 SCV000554481 benign Brugada syndrome 8 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000609446 SCV000729881 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619356 SCV000737745 likely benign Cardiovascular phenotype 2016-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)

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