ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.627C>T (p.Thr209=)

dbSNP: rs786201509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163776 SCV000214357 likely benign Hereditary cancer-predisposing syndrome 2014-10-01 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 RCV002053954 SCV002328631 likely benign Peutz-Jeghers syndrome 2023-08-04 criteria provided, single submitter clinical testing

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