ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.15C>T (p.Asp5=)

gnomAD frequency: 0.00001  dbSNP: rs786201498
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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 RCV000163753 SCV000214330 likely benign Hereditary cancer-predisposing syndrome 2014-11-21 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 RCV000538130 SCV000629094 likely benign Peutz-Jeghers syndrome 2023-10-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163753 SCV000691488 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590092 SCV000696713 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163753 SCV002531674 likely benign Hereditary cancer-predisposing syndrome 2020-11-09 criteria provided, single submitter curation

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