Submissions for variant NM_000179.3(MSH6):c.-12C>G

gnomAD frequency: 0.00001  dbSNP: rs766407370

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443454	SCV000520393	likely benign	not specified	2017-05-17	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	RCV000580863	SCV000685149	likely benign	Hereditary cancer-predisposing syndrome	2017-03-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000580863	SCV002689814	uncertain significance	Hereditary cancer-predisposing syndrome	2017-08-30	criteria provided, single submitter	clinical testing	The c.-12C>G variant is located in the 5' untranslated region (5’ UTR) of the MSH6 gene. This variant results from a C to G substitution 12 bases upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000443454	SCV004024776	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996067	SCV004832599	likely benign	Lynch syndrome	2023-12-01	criteria provided, single submitter	clinical testing