Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001000333 | SCV000291911 | benign | Brugada syndrome 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000249791 | SCV000318132 | benign | Cardiovascular phenotype | 2015-08-27 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589174 | SCV000700050 | benign | not provided | 2016-08-09 | criteria provided, single submitter | clinical testing | Variant summary: The CACNB2 c.831G>A (p.Ser277Ser) variant causes a synonymous change involving a non-conserved nucleotide. 5/5 splice prediction tools predict no significant impact on normal splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 884/121214 (1/137, 9 homozygotes), 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. A reputable clinical laboratory cites the variant as "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Benign. |
ARUP Laboratories, |
RCV001000333 | SCV001157058 | benign | Brugada syndrome 4 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589174 | SCV001899829 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000589174 | SCV004126522 | benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | CACNB2: BS1, BS2 |