ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.90C>T (p.Asp30=)

dbSNP: rs771765869
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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 RCV000164169 SCV000214787 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 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 RCV000472074 SCV000554132 likely benign Peutz-Jeghers syndrome 2024-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164169 SCV000691560 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780765 SCV000918282 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000472074 SCV004816310 likely benign Peutz-Jeghers syndrome 2023-02-24 criteria provided, single submitter clinical testing

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