ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.598-17G>A

gnomAD frequency: 0.00001  dbSNP: rs587781631
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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 RCV000129738 SCV000184544 likely benign Hereditary cancer-predisposing syndrome 2014-05-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055844 SCV002393708 likely benign Peutz-Jeghers syndrome 2023-07-30 criteria provided, single submitter clinical testing

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