ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.369G>A (p.Gln123=) (rs140112347)

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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 RCV000129594 SCV000184378 benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing
Invitae RCV000205529 SCV000261923 benign Peutz-Jeghers syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246390 SCV000304389 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205529 SCV000410736 likely benign Peutz-Jeghers syndrome 2018-02-08 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Color RCV000129594 SCV000686640 benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000246390 SCV001157373 benign not specified 2019-03-27 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129594 SCV000788218 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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