Submissions for variant NM_000455.5(STK11):c.*11C>T

gnomAD frequency: 0.00001  dbSNP: rs553039153

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425589	SCV000514805	likely benign	not specified	2016-03-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000580331	SCV000686571	likely benign	Hereditary cancer-predisposing syndrome	2015-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000580331	SCV004849306	uncertain significance	Hereditary cancer-predisposing syndrome	2015-06-30	criteria provided, single submitter	clinical testing	The c.*11C>T alteration is located in the 3' untranslated region (3'UTR) of the STK11 gene. This alteration consists of a deletion of 1 nucleotides after the last coding exon of the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000425589	SCV005089923	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing