Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620499 | SCV000738115 | likely benign | Cardiovascular phenotype | 2017-09-08 | 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. |
Invitae | RCV000652516 | SCV000774386 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Nyegaard lab; Aarhus University | RCV000149485 | SCV000187716 | benign | not provided | 2012-07-23 | no assertion criteria provided | research |