ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.598-11C>T

dbSNP: rs587782431
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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 RCV000131489 SCV000186477 likely benign Hereditary cancer-predisposing syndrome 2013-08-06 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.
Counsyl RCV000662968 SCV000785947 uncertain significance Peutz-Jeghers syndrome 2018-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000131489 SCV000910040 likely benign Hereditary cancer-predisposing syndrome 2018-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000662968 SCV002057263 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV000662968 SCV003486718 likely benign Peutz-Jeghers syndrome 2023-09-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662968 SCV004018026 likely benign Peutz-Jeghers syndrome 2023-04-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
All of Us Research Program, National Institutes of Health RCV000662968 SCV004831953 likely benign Peutz-Jeghers syndrome 2023-08-28 criteria provided, single submitter clinical testing

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