ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.579C>T (p.Ser193=) (rs730881961)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160972 SCV000213863 likely benign Hereditary cancer-predisposing syndrome 2015-01-12 criteria provided, single submitter clinical testing
Color RCV000160972 SCV000686664 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725212 SCV000335028 uncertain significance not provided 2015-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000213013 SCV000211681 benign not specified 2014-08-29 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.
Invitae RCV000464413 SCV000554111 likely benign Peutz-Jeghers syndrome 2017-12-29 criteria provided, single submitter clinical testing

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