ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.630C>T (p.Cys210=)

dbSNP: rs786201213
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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 RCV000163102 SCV000213611 likely benign Hereditary cancer-predisposing syndrome 2016-04-08 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 RCV001465916 SCV001669914 likely benign Peutz-Jeghers syndrome 2019-06-16 criteria provided, single submitter clinical testing

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