Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155944 | SCV000205656 | likely benign | not specified | 2013-08-14 | criteria provided, single submitter | clinical testing | Asn198Asn in exon 9 of RYR2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asn198Asn in exon 9 of RYR2 (allele frequency = n/a) |
Gene |
RCV000155944 | SCV000522937 | likely benign | not specified | 2017-03-14 | 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, |
RCV000778001 | SCV000914109 | likely benign | Cardiomyopathy | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515005 | SCV001004434 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354379 | SCV002654849 | likely benign | Cardiovascular phenotype | 2021-04-26 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000155944 | SCV004038019 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736610 | SCV004563590 | likely benign | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing |