ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.594C>T (p.Ala198=) (rs772940660)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163103 SCV000213612 likely benign Hereditary cancer-predisposing syndrome 2014-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000205659 SCV000260180 likely benign Peutz-Jeghers syndrome 2020-09-15 criteria provided, single submitter clinical testing
Counsyl RCV000205659 SCV000489542 likely benign Peutz-Jeghers syndrome 2016-10-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163103 SCV000686665 likely benign Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000858927 SCV001134845 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255568 SCV001432049 likely benign not specified 2020-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000858927 SCV001890457 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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