ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1068C>T (p.Ile356=)

gnomAD frequency: 0.00001  dbSNP: rs187744790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476064 SCV000554144 likely benign Peutz-Jeghers syndrome 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568288 SCV000664354 likely benign Hereditary cancer-predisposing syndrome 2015-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001696879 SCV000719117 likely benign not provided 2019-05-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26010451)
Color Diagnostics, LLC DBA Color Health RCV000568288 SCV000906772 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000476064 SCV004818975 likely benign Peutz-Jeghers syndrome 2023-10-27 criteria provided, single submitter clinical testing

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