Submissions for variant NM_000455.5(STK11):c.464+3G>A

dbSNP: rs1060499956

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474445	SCV000541125	likely benign	Peutz-Jeghers syndrome	2024-06-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000581483	SCV000691506	likely benign	Hereditary cancer-predisposing syndrome	2017-06-08	criteria provided, single submitter	clinical testing
Counsyl	RCV000474445	SCV000786207	uncertain significance	Peutz-Jeghers syndrome	2018-03-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000581483	SCV001184611	uncertain significance	Hereditary cancer-predisposing syndrome	2023-03-01	criteria provided, single submitter	clinical testing	The c.464+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 3 in the STK11 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab	RCV000474445	SCV002057243	uncertain significance	Peutz-Jeghers syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000474445	SCV004017950	likely benign	Peutz-Jeghers syndrome	2023-04-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
All of Us Research Program, National Institutes of Health	RCV000474445	SCV004828575	likely benign	Peutz-Jeghers syndrome	2023-09-04	criteria provided, single submitter	clinical testing