Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Phosphorus, |
RCV000578048 | SCV000679833 | uncertain significance | Familial atrial fibrillation | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578098 | SCV000679834 | uncertain significance | Brugada syndrome 9 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000577985 | SCV000679835 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578042 | SCV000679836 | uncertain significance | Dilated cardiomyopathy 1JJ | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578116 | SCV000679837 | uncertain significance | Primary dilated cardiomyopathy | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000951026 | SCV001097378 | likely benign | not provided | 2018-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159972 | SCV003858563 | likely benign | Cardiovascular phenotype | 2023-03-06 | 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. |