ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.558C>T (p.Thr186=)

dbSNP: rs749563734
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475672 SCV000554121 likely benign Peutz-Jeghers syndrome 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573277 SCV000664315 likely benign Hereditary cancer-predisposing syndrome 2014-10-13 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.
Color Diagnostics, LLC DBA Color Health RCV000573277 SCV000691516 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589376 SCV000696721 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001707697 SCV001936018 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000475672 SCV002057415 likely benign Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573277 SCV002531709 likely benign Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002506136 SCV002805752 likely benign Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis 2021-11-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000475672 SCV004015574 likely benign Peutz-Jeghers syndrome 2023-07-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000475672 SCV004816372 likely benign Peutz-Jeghers syndrome 2024-02-05 criteria provided, single submitter clinical testing

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