ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.374+24G>T

gnomAD frequency: 0.18985  dbSNP: rs2075604
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251123 SCV000304390 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001709524 SCV001156743 benign not provided 2020-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001709524 SCV001936577 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808667 SCV002057401 benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347950 SCV002622654 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001808667 SCV004015561 benign Peutz-Jeghers syndrome 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000251123 SCV000692043 benign not specified no assertion criteria provided clinical testing
Faculté Pluridciplinaire Nador, Université Mohamed Premier RCV001250928 SCV001250967 uncertain significance Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000251123 SCV001906327 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251123 SCV001959849 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000251123 SCV001968643 benign not specified no assertion criteria provided clinical testing

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