ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1604C>T (p.Thr535Met) (rs140743924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181737 SCV000234040 likely benign not specified 2016-08-29 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.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058145 SCV000089665 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:16487223).

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