Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534355 | SCV000166024 | benign | Familial adenomatous polyposis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589008 | SCV000515417 | likely benign | not provided | 2019-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491406 | SCV000579819 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000432457 | SCV000600061 | benign | not specified | 2019-11-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000491406 | SCV000681545 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589008 | SCV000694016 | likely benign | not provided | 2016-11-18 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.2640C>T (p.Ile880Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 4/121320 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0002594 (3/11566). This frequency is about 4 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 Latino origin. In addition, one clinical diagnostic laboratory has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as likely benign. |
Sema4, |
RCV000491406 | SCV002536919 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-10 | criteria provided, single submitter | curation |