ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) (rs201418838)

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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 RCV000726615 SCV000345835 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000272546 SCV000529067 likely benign not specified 2017-11-02 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.
Invitae RCV000726615 SCV000554482 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852706 SCV000995420 benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing

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