Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160959 | SCV000211668 | uncertain significance | not provided | 2023-02-03 | criteria provided, single submitter | clinical testing | Observed in individuals with a personal history of colon cancer and other cancers, but has not been reported in association with heritable disorders of connective tissue to our knowledge (Pearlman et al., 2017; Yurgelun et al., 2017; Cock-Rada et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28528518, 27978560, 28135145, 18823382, 22992590, 15235019) |
Invitae | RCV001420989 | SCV000254843 | likely benign | Juvenile polyposis syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000199953 | SCV000409096 | uncertain significance | Generalized juvenile polyposis/juvenile polyposis coli | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV000260140 | SCV000409097 | uncertain significance | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV000334040 | SCV000409098 | likely benign | Myhre syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Color Diagnostics, |
RCV000449407 | SCV000537608 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515353 | SCV000611523 | uncertain significance | Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312690 | SCV000671976 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2020-05-11 | 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. |
Sema4, |
RCV000449407 | SCV002538341 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-16 | criteria provided, single submitter | curation | |
Ce |
RCV000160959 | SCV002822462 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SMAD4: BP4 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000160959 | SCV004220361 | likely benign | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing | |
True Health Diagnostics | RCV000449407 | SCV000805308 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-27 | no assertion criteria provided | clinical testing | |
Genome |
RCV003483531 | SCV004228559 | not provided | Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | no assertion provided | phenotyping only | Variant interpreted as Likely benign and reported on 01-28-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |