Submissions for variant NM_000251.2(MSH2):c.1662-9G>A (rs17218356)

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076227	SCV000107250	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Multifactorial likelihood analysis posterior probability <0.001
Invitae	RCV000524351	SCV000262285	benign	Hereditary nonpolyposis colorectal neoplasms	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000625493	SCV000430927	likely benign	Lynch syndrome I	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000202150	SCV000592514	likely benign	not specified	2016-10-14	criteria provided, single submitter	clinical testing
Color	RCV000579780	SCV000684961	benign	Hereditary cancer-predisposing syndrome	2015-02-18	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc	RCV000625493	SCV000781772	uncertain significance	Lynch syndrome I	2016-11-01	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000202150	SCV000806007	benign	not specified	2017-01-17	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000202150	SCV000257148	uncertain significance	not specified		no assertion criteria provided	research
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam	RCV000625493	SCV000745640	benign	Lynch syndrome I	2017-09-07	no assertion criteria provided	clinical testing