ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.734+19dup

dbSNP: rs730881962
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160976 SCV000211686 likely benign not specified 2017-09-18 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.
Counsyl RCV000410039 SCV000488831 uncertain significance Peutz-Jeghers syndrome 2016-06-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580235 SCV000686682 likely benign Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000410039 SCV002057277 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV000410039 SCV002321115 benign Peutz-Jeghers syndrome 2024-01-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580235 SCV002533937 benign Hereditary cancer-predisposing syndrome 2021-03-17 criteria provided, single submitter curation

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