Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177335 | SCV001341530 | likely benign | Cardiomyopathy | 2019-01-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001467044 | SCV001671060 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429573 | SCV002744353 | likely benign | Cardiovascular phenotype | 2022-11-09 | 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. |
Prevention |
RCV003942516 | SCV004764539 | likely benign | DSP-related condition | 2022-10-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |