ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) (rs59912467)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656543 SCV000605311 benign not provided 2017-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115593 SCV000185922 benign Hereditary cancer-predisposing syndrome 2014-07-15 criteria provided, single submitter clinical testing
Color RCV000115593 SCV000292116 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000007887 SCV000488404 benign Peutz-Jeghers syndrome 2016-03-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122091 SCV000700379 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Foundation Medicine, Inc. RCV000122091 SCV000299350 uncertain significance not specified no assertion criteria provided clinical testing
GeneDx RCV000115593 SCV000149502 benign Hereditary cancer-predisposing syndrome 2013-12-13 criteria provided, single submitter clinical testing The variant is found in HEREDICANCER,COLO-HEREDIC,BR-OV-HEREDIC,HIRISK-BR-HEREDIC panel(s).
ITMI RCV000122091 SCV000086306 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000007887 SCV000410747 likely benign Peutz-Jeghers syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000115593 SCV000747824 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000007887 SCV000153890 benign Peutz-Jeghers syndrome 2018-01-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000122091 SCV000540465 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 3.7% (283/7750) East Asian chromosomes; ClinVar: 3 benign, 1 VUS
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656543 SCV000692055 benign not provided 2018-01-24 no assertion criteria provided clinical testing
OMIM RCV000007887 SCV000028092 uncertain significance Peutz-Jeghers syndrome 2005-05-15 no assertion criteria provided literature only
Pathway Genomics RCV000007887 SCV000189992 uncertain significance Peutz-Jeghers syndrome 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000122091 SCV000304385 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115593 SCV000788216 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing
Vantari Genetics RCV000115593 SCV000267092 benign Hereditary cancer-predisposing syndrome 2015-12-18 criteria provided, single submitter clinical testing

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