Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703460 | SCV000513385 | likely benign | not provided | 2019-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000526418 | SCV000649482 | likely benign | Benign neonatal seizures | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418251 | SCV002722234 | likely benign | Inborn genetic diseases | 2018-09-18 | 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 |
RCV001703460 | SCV004163232 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | KCNQ3: BS2 |