ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.750G>A (p.Thr250=)

gnomAD frequency: 0.00001  dbSNP: rs748112446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461110 SCV000541126 likely benign Peutz-Jeghers syndrome 2023-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583559 SCV000691545 likely benign Hereditary cancer-predisposing syndrome 2016-11-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000461110 SCV002057280 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583559 SCV002671910 likely benign Hereditary cancer-predisposing syndrome 2018-06-28 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.
All of Us Research Program, National Institutes of Health RCV000461110 SCV004818900 likely benign Peutz-Jeghers syndrome 2023-08-15 criteria provided, single submitter clinical testing

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