ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.945G>T (p.Pro315=)

dbSNP: rs376329042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181915 SCV001347160 likely benign Hereditary cancer-predisposing syndrome 2019-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068301 SCV002344383 likely benign Peutz-Jeghers syndrome 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181915 SCV002688324 likely benign Hereditary cancer-predisposing syndrome 2019-11-25 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.

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