Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131559 | SCV000186562 | benign | Hereditary cancer-predisposing syndrome | 2014-11-29 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV000212912 | SCV000211605 | benign | not specified | 2014-01-23 | 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. |
Invitae | RCV000131559 | SCV000260569 | benign | Hereditary cancer-predisposing syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410362 | SCV000488654 | likely benign | Nijmegen breakage syndrome-like disorder | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212912 | SCV000918118 | benign | not specified | 2018-01-08 | criteria provided, single submitter | clinical testing | Variant summary: The RAD50 c.2091C>T (p.Val697Val) variant involves the alteration of a non-conserved nucleotide causes a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 129/277028 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.004827 (116/24030). This frequency is about 77 times the estimated maximal expected allele frequency of a pathogenic RAD50 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. A publication, Young_2016, cites the variant, however, with limited information. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign. |
Sema4, |
RCV000410362 | SCV002538467 | benign | Nijmegen breakage syndrome-like disorder | 2021-09-03 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315908 | SCV004017238 | benign | Familial cancer of breast | 2023-07-07 | criteria provided, single submitter | clinical testing |