ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.264C>A (rs56354945)

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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 RCV000078912 SCV000110772 benign not specified 2013-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129391 SCV000184157 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;In silico models in agreement (benign)
PreventionGenetics,PreventionGenetics RCV000078912 SCV000304387 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406309 SCV000410734 benign Peutz-Jeghers syndrome 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000406309 SCV000554137 benign Peutz-Jeghers syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000129391 SCV000686626 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000078912 SCV001156742 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129391 SCV000788217 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing
Faculté Pluridciplinaire Nador,Université Mohamed Premier RCV001250944 SCV001250927 likely benign Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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