Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163472 | SCV000214027 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-13 | 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. |
Invitae | RCV003534426 | SCV000252596 | benign | Familial adenomatous polyposis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000371701 | SCV000452053 | benign | APC-Associated Polyposis Disorders | 2018-01-13 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Color Diagnostics, |
RCV000163472 | SCV000681906 | benign | Hereditary cancer-predisposing syndrome | 2016-05-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590536 | SCV000694134 | benign | not provided | 2016-03-25 | criteria provided, single submitter | clinical testing | Variant Summary: The c.8043G>C variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 3/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with, an allele frequency of 0.025%, primarily observed in the African subpopulation at a frequency of 0.27%. This frequency exceeds the maximum expected allele frequency for a pathogenic APC variant of 0.006%, suggesting this is a benign polymorphism found primarily in the African subpopulation. Multiple reputable clinical labs have classified the variant as likely benign/benign. Taken together, due to the synonymous nature of the variant, the relatively high frequency of the variant in the population, and the lack of predicted effect on splicing, this variant has been classified as Benign. |
Preventiongenetics, |
RCV000590536 | SCV000805475 | likely benign | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000590536 | SCV000888773 | benign | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000590536 | SCV001865589 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163472 | SCV002531515 | benign | Hereditary cancer-predisposing syndrome | 2020-10-30 | criteria provided, single submitter | curation | |
ARUP Laboratories, |
RCV000590536 | SCV003799434 | benign | not provided | 2022-11-28 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV002516450 | SCV004015947 | benign | Familial adenomatous polyposis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000590536 | SCV004159233 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | APC: BP4, BP7, BS1 |