ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1026C>A (p.Leu342=) (rs17309806)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619745 SCV000734969 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576297 SCV000677292 benign Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2017-05-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711624 SCV000842008 benign not provided 2017-05-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079422 SCV000111301 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079422 SCV000151166 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 RCV000378499 SCV000476427 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284002 SCV000476428 likely benign Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079422 SCV000269111 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Leu342Leu in exon 9 of FKTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 31.8% (2731/8596) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17309806).
PreventionGenetics RCV000079422 SCV000306349 benign not specified criteria provided, single submitter clinical testing

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