Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076314 | SCV000107335 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability <0.001 |
Invitae | RCV001079970 | SCV000166267 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000121562 | SCV000170345 | benign | not specified | 2014-05-05 | 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. |
Ambry Genetics | RCV000129036 | SCV000172946 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification;Other strong data supporting benign classification;Subpopulation frequency in support of benign classification |
Soonchunhyang University Bucheon Hospital, |
RCV000490519 | SCV000267400 | uncertain significance | Lynch syndrome I | 2016-03-18 | criteria provided, single submitter | reference population | |
Illumina Clinical Services Laboratory, |
RCV000490519 | SCV000430930 | likely benign | Lynch syndrome I | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000121562 | SCV000601445 | likely benign | not specified | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Color | RCV000129036 | SCV000684992 | benign | Hereditary cancer-predisposing syndrome | 2015-02-02 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000587872 | SCV000696228 | benign | not provided | 2016-09-06 | criteria provided, single submitter | clinical testing | Variant summary: The MSH2 c.1886A>G (p.Gln629Arg) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 159/123118 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.0174486 (151/8654). This frequency is about 31 times the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. This variant has also been reported in colorectal patients or HNPCC-related cancer without strong evidence for pathogenicity. In a family, while affected proband carried the variant, another affected cousin did not carry the variant, possibly suggesting that it did not co-segregate with disease in the family (Woo_2014). Multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as Benign. |
Prevention |
RCV000121562 | SCV000806016 | benign | not specified | 2017-08-02 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121562 | SCV000085756 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000121562 | SCV000691907 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000490519 | SCV000745643 | benign | Lynch syndrome I | 2017-07-04 | no assertion criteria provided | clinical testing |