Submissions for variant NM_000251.3(MSH2):c.*226A>G

gnomAD frequency: 0.00201  dbSNP: rs17225060

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000075975	SCV000106999	likely benign	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Multifactorial likelihood analysis posterior probability 0.001-0.049
Mendelics	RCV000986692	SCV001135768	likely benign	Lynch syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000986692	SCV001297284	likely benign	Lynch syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001731361	SCV001982737	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32575404)
Sema4, Sema4	RCV002257400	SCV002528795	likely benign	Hereditary cancer-predisposing syndrome	2021-04-28	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267839	SCV002552264	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Invitae	RCV002513804	SCV003247033	benign	Hereditary nonpolyposis colorectal neoplasms	2022-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001731361	SCV004146073	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MSH2: BS1