Submissions for variant NM_000455.5(STK11):c.69C>T (p.Asp23=)

dbSNP: rs1599914867

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000945074	SCV001091060	likely benign	Peutz-Jeghers syndrome	2023-09-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001025895	SCV001188172	likely benign	Hereditary cancer-predisposing syndrome	2018-09-25	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.
Illumina Laboratory Services, Illumina	RCV000945074	SCV001287376	uncertain significance	Peutz-Jeghers syndrome	2017-04-27	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV000945074	SCV002057227	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000945074	SCV004825938	likely benign	Peutz-Jeghers syndrome	2023-11-30	criteria provided, single submitter	clinical testing