Submissions for variant NM_000179.2(MSH6):c.3801+17T>C (rs3136365)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000202209	SCV000170364	benign	not specified	2014-03-14	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	RCV000411208	SCV000488085	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2015-12-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590707	SCV000695889	benign	not provided	2016-01-04	criteria provided, single submitter	clinical testing	Variant summary: This c.3801+17T>C variant affects a non-conserved intronic nucleotide at a location not widely known to affect normal splicing. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. In addition, ESEfinder also predicts that this variant does not affect ESE sites. This variant is found in 51/10276 African control chromosomes (including 1 homozygote) at a frequency of 0.00496, which is about 34 times greater than the maximal expected frequency of a pathogenic allele (0.0001421) in this gene, suggesting this variant is benign. In addition, two clinical laboratories have classified this variant as benign/likely benign. Taken together, this variant was classified as Benign.
PreventionGenetics,PreventionGenetics	RCV000202209	SCV000805897	benign	not specified	2017-06-07	criteria provided, single submitter	clinical testing
Color Health, Inc	RCV000771088	SCV000902648	likely benign	Hereditary cancer-predisposing syndrome	2015-04-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000411208	SCV001135848	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000202209	SCV001158693	benign	not specified	2019-03-27	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000202209	SCV000257280	likely benign	not specified		no assertion criteria provided	research