Submissions for variant NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) (rs2020908)

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000121576	SCV000604277	benign	not specified	2016-05-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000157762	SCV000212712	benign	Hereditary cancer-predisposing syndrome	2014-08-20	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034490	SCV000043352	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
Center for Human Genetics, Inc	RCV000625241	SCV000781786	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2016-11-01	criteria provided, single submitter	clinical testing
Color	RCV000157762	SCV000537391	benign	Hereditary cancer-predisposing syndrome	2014-11-19	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000625241	SCV000744290	benign	Hereditary nonpolyposis colorectal cancer type 5	2015-09-21	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000121576	SCV000592581	benign	not specified	2013-08-16	criteria provided, single submitter	clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	RCV000030259	SCV000296878	benign	Lynch syndrome	2015-09-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000121576	SCV000170351	benign	not specified	2013-10-21	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.
Genetic Services Laboratory, University of Chicago	RCV000121576	SCV000595841	benign	not specified	2017-06-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam	RCV000625241	SCV000745648	benign	Hereditary nonpolyposis colorectal cancer type 5	2016-07-11	criteria provided, single submitter	clinical testing
ITMI	RCV000121576	SCV000085772	not provided	not specified	2013-09-19	no assertion provided	reference population
Illumina Clinical Services Laboratory,Illumina	RCV000030259	SCV000430960	likely benign	Lynch syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000030259	SCV000052926	benign	Lynch syndrome	2013-10-16	no assertion criteria provided	clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000030259	SCV000107841	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Multifactorial likelihood analysis posterior probability <0.001
Invitae	RCV000524104	SCV000262452	benign	Hereditary nonpolyposis colon cancer	2018-01-24	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000121576	SCV000257209	benign	not specified		no assertion criteria provided	clinical testing
Pathway Genomics	RCV000144628	SCV000189955	benign	Lynch syndrome I	2014-07-24	no assertion criteria provided	clinical testing
PreventionGenetics	RCV000121576	SCV000302868	benign	not specified		criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000157762	SCV000788042	benign	Hereditary cancer-predisposing syndrome	2018-02-20	no assertion criteria provided	clinical testing
Vantari Genetics	RCV000157762	SCV000267054	benign	Hereditary cancer-predisposing syndrome	2015-12-03	criteria provided, single submitter	clinical testing