ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.863-6C>T

gnomAD frequency: 0.00001  dbSNP: rs757276643
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443788 SCV000514801 benign not specified 2015-05-26 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.
Invitae RCV000456171 SCV000554113 likely benign Peutz-Jeghers syndrome 2024-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580960 SCV000686698 likely benign Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000456171 SCV000785582 likely benign Peutz-Jeghers syndrome 2017-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000456171 SCV002057441 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580960 SCV002526952 likely benign Hereditary cancer-predisposing syndrome 2021-05-31 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000456171 SCV004017920 likely benign Peutz-Jeghers syndrome 2023-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences RCV003950368 SCV004765293 likely benign STK11-related disorder 2023-08-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000456171 SCV004832381 likely benign Peutz-Jeghers syndrome 2023-11-20 criteria provided, single submitter clinical testing

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