Submissions for variant NM_000249.4(MLH1):c.1896+17T>C

gnomAD frequency: 0.00001  dbSNP: rs193922368

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030217	SCV000052884	uncertain	Lynch syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Uncertain significance.
GeneDx	RCV000441911	SCV000520974	likely benign	not specified	2017-04-06	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	RCV000581070	SCV000684780	likely benign	Hereditary cancer-predisposing syndrome	2015-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV002054504	SCV002325260	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149580	SCV003838871	likely benign	Breast and/or ovarian cancer	2023-04-25	criteria provided, single submitter	clinical testing