Submissions for variant NM_000179.3(MSH6):c.627+9C>T

gnomAD frequency: 0.00003  dbSNP: rs373155872

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000196316	SCV000253118	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-11-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000428318	SCV000523294	likely benign	not specified	2017-07-17	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	RCV000773067	SCV000906489	likely benign	Hereditary cancer-predisposing syndrome	2016-04-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000986706	SCV001135790	likely benign	Lynch syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003333973	SCV004042071	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	MSH6: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000428318	SCV004223785	likely benign	not specified	2023-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739583	SCV005360315	likely benign	MSH6-related disorder	2023-05-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).