ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.668C>T (p.Thr223Ile) (rs116105846)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000361387 SCV000196831 benign not specified 2016-07-13 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 RCV000710134 SCV000285820 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251420 SCV000319575 likely benign Cardiovascular phenotype 2017-12-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000361387 SCV000337567 benign not specified 2015-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000361387 SCV000594788 likely benign not specified 2016-05-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710134 SCV000613319 likely benign not provided 2018-02-22 criteria provided, single submitter clinical testing

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