Submissions for variant NM_000179.3(MSH6):c.4001+15A>G

gnomAD frequency: 0.00004  dbSNP: rs202176821

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000581529	SCV000690427	likely benign	Hereditary cancer-predisposing syndrome	2016-07-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001613388	SCV001833482	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002061860	SCV002368712	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000581529	SCV004849131	uncertain significance	Hereditary cancer-predisposing syndrome	2015-06-11	criteria provided, single submitter	clinical testing	The c.4001+15A>G intronic alteration consists of a A to G substitution 5 nucleotides after coding exon 9 in the MSH6 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center	RCV001613388	SCV002034375	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001613388	SCV002035570	likely benign	not provided		no assertion criteria provided	clinical testing