ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1978+3G>T (rs113112855)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000332237 SCV000340712 benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000466388 SCV000554489 benign Brugada syndrome 8 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000332237 SCV000714890 likely benign not specified 2017-12-19 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 RCV000621462 SCV000735711 likely benign Cardiovascular phenotype 2018-08-02 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification

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