Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001391329 | SCV000632769 | likely benign | Juvenile polyposis syndrome | 2024-12-26 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000581754 | SCV000691406 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000604219 | SCV000713995 | likely benign | not specified | 2017-07-20 | 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 | RCV002314972 | SCV000739688 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2015-10-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Illumina Laboratory Services, |
RCV001123418 | SCV001282257 | uncertain significance | Myhre syndrome | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Illumina Laboratory Services, |
RCV001123419 | SCV001282258 | uncertain significance | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Illumina Laboratory Services, |
RCV000530327 | SCV001282259 | uncertain significance | Generalized juvenile polyposis/juvenile polyposis coli | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| All of Us Research Program, |
RCV001123419 | SCV004820095 | likely benign | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2023-03-28 | criteria provided, single submitter | clinical testing |