Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129075 | SCV000183778 | benign | Hereditary cancer-predisposing syndrome | 2015-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000204842 | SCV000261248 | benign | Familial adenomatous polyposis 1 | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000236472 | SCV000292453 | likely benign | not specified | 2017-08-02 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000236472 | SCV000591136 | likely benign | not specified | 2012-11-26 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000034410 | SCV000694028 | benign | not provided | 2016-05-16 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.3249T>G (p.Asp1083Glu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). It does not lie in a known MCR (mutation cluster region) located at exon 15 where pathogenic variants are clustered (PMIDs 1338904 and 18387968). This variant was found in 17/121710 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0002413 (16/66310). This frequency is about 3 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In a FAP family reported in literature, it was found in affected as well as unaffected members suggesting that it is unlikely to cause disease in the family (Gayther_1995). In addition, it was also found to co-occur with another pathogenic variant c.1312+3A>G in one sample reported n UMD database, further supporting a benign outcome. A diagnostic center and a reputable database have classified this variant as likely benign/benign. Taken together, this variant has been classified as Benign. |
Prevention |
RCV000034410 | SCV000805391 | likely benign | not provided | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000034410 | SCV000887519 | benign | not provided | 2018-02-21 | criteria provided, single submitter | clinical testing | |
Color | RCV000129075 | SCV000910614 | benign | Hereditary cancer-predisposing syndrome | 2016-06-19 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034410 | SCV000043119 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |