Submissions for variant NM_000249.4(MLH1):c.545+19G>T

gnomAD frequency: 0.00007  dbSNP: rs41285099

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000157757	SCV000170287	benign	not specified	2014-03-28	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.
Counsyl	RCV000409249	SCV000489297	likely benign	Colorectal cancer, hereditary nonpolyposis, type 2	2016-09-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000581128	SCV000684840	likely benign	Hereditary cancer-predisposing syndrome	2015-10-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000157757	SCV000696169	likely benign	not specified	2024-12-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054916	SCV002423628	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-02-03	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000157757	SCV004243136	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Narod's Lab, University of Toronto	RCV000059816	SCV000091386	not provided	not provided		no assertion provided	not provided