ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.564C>T (p.Gly188=)

dbSNP: rs786201344
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163432 SCV000213978 likely benign Hereditary cancer-predisposing syndrome 2019-04-17 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 RCV000807723 SCV000947792 likely benign Peutz-Jeghers syndrome 2024-01-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163432 SCV002052363 likely benign Hereditary cancer-predisposing syndrome 2021-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000807723 SCV002057260 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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