ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) (rs41277797)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619307 SCV000735023 benign Cardiovascular phenotype 2015-09-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079431 SCV000613316 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079431 SCV000111310 benign not specified 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000079431 SCV000168563 benign not specified 2014-01-08 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 RCV000079431 SCV000151168 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000368379 SCV000476415 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397538 SCV000476416 uncertain significance Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466034 SCV000557840 benign Walker-Warburg congenital muscular dystrophy 2017-08-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079431 SCV000269112 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Arg56Cys in exon 5 of FKTN: This variant is not expected to have clinical sign ificance because it has been identified in 3.7% (1650/44834) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41277797).
PreventionGenetics RCV000079431 SCV000306353 benign not specified criteria provided, single submitter clinical testing

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