ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.465-18G>T

gnomAD frequency: 0.00005  dbSNP: rs587781177
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128294 SCV000171886 benign not specified 2014-01-30 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.
Counsyl RCV000411106 SCV000489221 likely benign Peutz-Jeghers syndrome 2016-09-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581054 SCV000686658 likely benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679319 SCV000806081 likely benign not provided 2017-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000411106 SCV002057410 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV000411106 SCV002391180 likely benign Peutz-Jeghers syndrome 2024-02-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000128294 SCV002552010 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000411106 SCV004017992 likely benign Peutz-Jeghers syndrome 2023-04-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000679319 SCV001800259 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000679319 SCV001922392 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000679319 SCV001955489 likely benign not provided no assertion criteria provided clinical testing

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