Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000213500 | SCV000275576 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-05 | 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. |
| Gene |
RCV000484255 | SCV000564561 | uncertain significance | not provided | 2016-04-11 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.384A>G at the DNA level. This variant is silent at the coding level, preserving an Arginine at codon 128. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. APC c.384A>G was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project.The nucleotide which is altered, a adenine (A) at base 384, is conserved across species. Based on currently available information, it is unclear whether APC c.384A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Invitae | RCV002515633 | SCV001658499 | likely benign | Familial adenomatous polyposis 1 | 2022-11-03 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000213500 | SCV001734491 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-14 | criteria provided, single submitter | clinical testing |