ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.734+20G>A

gnomAD frequency: 0.00007  dbSNP: rs375315233
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213017 SCV000171888 benign not specified 2014-02-12 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 RCV000128909 SCV000172776 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Counsyl RCV000410646 SCV000489195 likely benign Peutz-Jeghers syndrome 2016-08-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000128909 SCV000686683 likely benign Hereditary cancer-predisposing syndrome 2015-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000410646 SCV002057428 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV000410646 SCV002363949 likely benign Peutz-Jeghers syndrome 2024-01-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149874 SCV003837869 uncertain significance Breast and/or ovarian cancer 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915281 SCV004737875 likely benign STK11-related disorder 2022-11-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000213017 SCV005089910 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000213017 SCV000692049 uncertain significance not specified no assertion criteria provided clinical testing

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