ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.681G>A (p.Leu227=) (rs142604625)

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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 RCV000247400 SCV000320135 likely benign Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725721 SCV000338849 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000347593 SCV000513043 benign not specified 2015-09-22 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 RCV000287677 SCV000476425 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323973 SCV000476426 uncertain significance Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464772 SCV000557837 likely benign Walker-Warburg congenital muscular dystrophy 2018-01-03 criteria provided, single submitter clinical testing

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