ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.734+17C>G

gnomAD frequency: 0.00006  dbSNP: rs751929304
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443296 SCV000515647 benign not specified 2015-05-26 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 RCV000580559 SCV000686680 likely benign Hereditary cancer-predisposing syndrome 2016-05-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808801 SCV002057427 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001808801 SCV002384062 likely benign Peutz-Jeghers syndrome 2024-01-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001808801 SCV004015568 benign Peutz-Jeghers syndrome 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000443296 SCV004242948 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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