ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.42G>A (p.Thr14=) (rs78794935)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619141 SCV000735999 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079436 SCV000111315 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000079436 SCV000168560 benign not specified 2014-03-14 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 RCV000079436 SCV000151171 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
Invitae RCV000230789 SCV000285818 benign Walker-Warburg congenital muscular dystrophy 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079436 SCV000306355 benign not specified criteria provided, single submitter clinical testing

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