ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.897C>T (p.Ser299=)

gnomAD frequency: 0.00001  dbSNP: rs769013935
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163117 SCV000213628 likely benign Hereditary cancer-predisposing syndrome 2016-05-26 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.
Invitae RCV000229807 SCV000284879 likely benign Peutz-Jeghers syndrome 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163117 SCV000686701 likely benign Hereditary cancer-predisposing syndrome 2016-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001594861 SCV001828504 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000229807 SCV002057444 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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