Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591544 | SCV000707436 | uncertain significance | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404610 | SCV002714161 | likely benign | Cardiovascular phenotype | 2019-06-25 | 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. |
Ce |
RCV000591544 | SCV003916192 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |