ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1912G>A (p.Glu638Lys) (rs141117135)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421078 SCV000513232 likely benign not specified 2017-08-18 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 RCV000058180 SCV000627471 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Color RCV000777935 SCV000914032 likely benign Arrhythmia 2018-10-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000058180 SCV001144313 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058180 SCV000089700 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:19841300).

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