ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.180C>T (p.Tyr60=)

gnomAD frequency: 0.00001  dbSNP: rs778376925
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226061 SCV000284858 likely benign Peutz-Jeghers syndrome 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013200 SCV001173752 likely benign Hereditary cancer-predisposing syndrome 2017-12-15 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.
Color Diagnostics, LLC DBA Color Health RCV001013200 SCV001355792 likely benign Hereditary cancer-predisposing syndrome 2018-11-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477793 SCV004221273 likely benign not provided 2023-08-23 criteria provided, single submitter clinical testing

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