ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) (rs34787999)

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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 RCV000622089 SCV000734990 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576490 SCV000677293 benign Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079437 SCV000111316 benign not specified 2015-09-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079437 SCV000151172 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 RCV000322229 SCV000476423 likely benign Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379215 SCV000476424 likely benign Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079437 SCV000269113 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg203Gln in exon 6 of FKTN: This variant is not expected to have clinical sig nificance because it has been identified in 31.9% (2743/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs34787999).
PreventionGenetics RCV000079437 SCV000306356 benign not specified criteria provided, single submitter clinical testing

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