ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.*8C>T (rs587782259)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213042 SCV000171898 benign not specified 2014-05-01 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.
Ambry Genetics RCV000130973 SCV000185888 uncertain significance Hereditary cancer-predisposing syndrome 2014-09-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Illumina Clinical Services Laboratory,Illumina RCV000339554 SCV000410750 likely benign Peutz-Jeghers syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679315 SCV000806065 likely benign not provided 2017-01-30 criteria provided, single submitter clinical testing
Color RCV000130973 SCV000902617 likely benign Hereditary cancer-predisposing syndrome 2015-04-06 criteria provided, single submitter clinical testing
Mendelics RCV000339554 SCV001140950 likely benign Peutz-Jeghers syndrome 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000213042 SCV000692057 uncertain significance not specified no assertion criteria provided clinical testing

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