ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.920+7G>C (rs2075607)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078914 SCV000110774 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129163 SCV000183895 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics,PreventionGenetics RCV000078914 SCV000304396 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288977 SCV000410746 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.
Color Health, Inc RCV000129163 SCV000537339 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282993 SCV000605313 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000288977 SCV001000200 benign Peutz-Jeghers syndrome 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001356284 SCV001915031 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000078914 SCV000692052 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356284 SCV001551407 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078914 SCV001740989 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000078914 SCV001905683 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078914 SCV001921101 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078914 SCV001958820 benign not specified no assertion criteria provided clinical testing

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