ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) (rs34006675)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079434 SCV000111313 benign not specified 2012-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079434 SCV000151170 benign not specified 2013-04-16 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.
PreventionGenetics,PreventionGenetics RCV000079434 SCV000306354 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000460207 SCV000557842 benign Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620119 SCV000735198 benign Cardiovascular phenotype 2015-05-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079434 SCV000885465 benign not specified 2019-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000003366 SCV001329721 likely benign Fukuyama congenital muscular dystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000003366 SCV000023524 uncertain significance Fukuyama congenital muscular dystrophy 2011-01-12 no assertion criteria provided literature only

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