ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) (rs141918432)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620492 SCV000735118 likely benign Cardiovascular phenotype 2018-05-09 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)
Athena Diagnostics Inc RCV000149976 SCV000613314 uncertain significance not specified 2017-04-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000149976 SCV000333358 likely benign not specified 2015-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000149976 SCV000196832 likely benign not specified 2018-01-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000390697 SCV000476433 uncertain significance Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314345 SCV000476434 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029800 SCV000052455 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000473598 SCV000557841 likely benign Walker-Warburg congenital muscular dystrophy 2017-12-22 criteria provided, single submitter clinical testing

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