Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489305 | SCV000576824 | uncertain significance | not provided | 2023-07-18 | criteria provided, single submitter | clinical testing | Reported as a heterozygous variant in a pediatric patient with HCM who also harbored variants in autosomal dominant genes (Burstein et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26582918, 32746448) |
Invitae | RCV001084303 | SCV000756127 | likely benign | Alstrom syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431429 | SCV002740564 | likely benign | Cardiovascular phenotype | 2021-05-24 | 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. |