ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) (rs34006675)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757299 SCV000885465 benign not provided 2017-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620119 SCV000735198 benign Cardiovascular phenotype 2015-05-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079434 SCV000111313 benign not specified 2012-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000079434 SCV000168564 benign not specified 2013-10-31 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.
Genetic Services Laboratory, University of Chicago RCV000079434 SCV000151170 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Invitae RCV000460207 SCV000557842 benign Walker-Warburg congenital muscular dystrophy 2017-08-08 criteria provided, single submitter clinical testing
OMIM RCV000003366 SCV000023524 uncertain significance Fukuyama congenital muscular dystrophy 2011-01-12 no assertion criteria provided literature only
PreventionGenetics RCV000079434 SCV000306354 benign not specified criteria provided, single submitter clinical testing

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