ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.166-6A>G (rs41277795)

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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 RCV000079430 SCV000111309 benign not specified 2012-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000079430 SCV000168562 benign not specified 2013-12-21 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 RCV000079430 SCV000247384 likely benign not specified 2015-08-03 criteria provided, single submitter clinical testing
Invitae RCV000232980 SCV000285816 benign Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079430 SCV000306352 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711625 SCV000842009 benign not provided 2017-12-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165653 SCV001327870 uncertain significance Dilated cardiomyopathy 1X 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001165654 SCV001327871 likely benign Fukuyama congenital muscular dystrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000029803 SCV000052458 benign Cardiomyopathy 2015-08-17 no assertion criteria provided clinical testing

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