ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.987G>A (p.Lys329=)

dbSNP: rs1555739210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827459 SCV000969109 likely benign not provided 2018-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001175696 SCV001339403 likely benign Hereditary cancer-predisposing syndrome 2019-03-26 criteria provided, single submitter clinical testing
Invitae RCV001447027 SCV001650085 likely benign Peutz-Jeghers syndrome 2018-02-21 criteria provided, single submitter clinical testing

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