Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000250960 | SCV000319111 | likely benign | Cardiovascular phenotype | 2019-07-05 | 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 |
RCV001705388 | SCV000525975 | likely benign | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000462776 | SCV000557187 | benign | Long QT syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253335 | SCV002525056 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955399 | SCV004772220 | benign | ANK2-related disorder | 2019-11-19 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |