ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.816C>T (p.Tyr272=) (rs9282859)

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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 RCV000129587 SCV000184370 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;Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
PreventionGenetics,PreventionGenetics RCV000241793 SCV000304394 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333429 SCV000410744 benign Peutz-Jeghers syndrome 2018-01-12 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 RCV000333429 SCV000554120 benign Peutz-Jeghers syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000129587 SCV000686691 benign Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000241793 SCV000884612 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000241793 SCV000692050 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000129587 SCV000788220 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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