ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.166-6A>G (rs41277795)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711625 SCV000842009 benign not provided 2017-12-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079430 SCV000111309 benign not specified 2012-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000079430 SCV000168562 benign not specified 2013-12-21 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.
Genetic Services Laboratory, University of Chicago RCV000079430 SCV000247384 likely benign not specified 2015-08-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029803 SCV000052458 benign Cardiomyopathy 2015-08-17 no assertion criteria provided clinical testing
Invitae RCV000232980 SCV000285816 benign Walker-Warburg congenital muscular dystrophy 2017-08-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079430 SCV000306352 likely benign not specified criteria provided, single submitter clinical testing

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