ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.375-49G>A

gnomAD frequency: 0.45190  dbSNP: rs34928889
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000241659 SCV000304391 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001696189 SCV001916338 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808668 SCV002057402 benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347951 SCV002622182 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Faculté Pluridciplinaire Nador, Université Mohamed Premier RCV001250929 SCV001250968 uncertain significance Squamous cell lung carcinoma 2020-05-05 no assertion criteria provided clinical testing

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