Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000162732 | SCV000213200 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-10 | 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 | RCV001081101 | SCV000253618 | likely benign | Familial cancer of breast; Fanconi anemia complementation group J | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000421920 | SCV000512419 | benign | not specified | 2015-04-17 | 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. |
| Color Diagnostics, |
RCV000162732 | SCV000684143 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-11 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590445 | SCV000699670 | benign | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | Variant summary: The BRIP1 c.1626C>T (p.Ser542Ser) variant involves the alteration of a conserved nucleotide causing a synonymous change, which 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts the remove of ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 48/121252 (1/2525) control chromosomes, predominantly observed in the South Asian cohort, 38/16490 (1/434), which is about 37 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant, 1/16000. Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of South Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign. |
| ARUP Laboratories, |
RCV000999814 | SCV000885119 | likely benign | Fanconi anemia complementation group J | 2019-06-12 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000162732 | SCV002531365 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-04 | criteria provided, single submitter | curation | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000590445 | SCV004220689 | benign | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing |