ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.189G>A (p.Val63=)

dbSNP: rs1342321548
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507883 SCV000602218 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000524668 SCV000629099 likely benign Peutz-Jeghers syndrome 2023-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000524668 SCV002057232 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV002275065 SCV002562496 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002413390 SCV002718124 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 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.

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