Submissions for variant NM_000455.5(STK11):c.1236C>T (p.Asn412=)

dbSNP: rs1158714606

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000553180	SCV000629081	likely benign	Peutz-Jeghers syndrome	2023-03-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001731751	SCV001982064	uncertain significance	not provided	2021-09-27	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV000553180	SCV002057338	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367786	SCV002661537	likely benign	Hereditary cancer-predisposing syndrome	2021-03-30	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.