Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000254060 | SCV000320059 | likely benign | Cardiovascular phenotype | 2015-08-17 | 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. |
| Gene |
RCV000426602 | SCV000515399 | benign | not specified | 2016-06-24 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589421 | SCV000700056 | benign | not provided | 2016-06-08 | criteria provided, single submitter | clinical testing | Variant summary: The CACNB2 c.460T>C (p.Leu154Leu) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing, although these predictions have yet to be functionally assessed.. This variant was observed in the large, broad control population, ExAC, with an allele frequency of 80/118066 (1 homozygote, 1/1475, frequency 0.0006776), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic CACNB2 variant of 1/100000 (0.00001), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as Benign. |
| Labcorp Genetics |
RCV001078923 | SCV001011284 | benign | Brugada syndrome 4 | 2025-01-21 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV000589421 | SCV005227036 | likely benign | not provided | criteria provided, single submitter | not provided |