ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.264C>A (p.Ile88=) (rs56354945)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078912 SCV000110772 benign not specified 2013-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129391 SCV000184157 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics,PreventionGenetics RCV000078912 SCV000304387 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406309 SCV000410734 likely benign Peutz-Jeghers syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857689 SCV000554137 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Color RCV000129391 SCV000686626 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129391 SCV000788217 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing

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