Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538363 | SCV000655761 | benign | Luscan-Lumish syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726241 | SCV001962488 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SETD2: BS2 |
Ambry Genetics | RCV002525325 | SCV003741800 | likely benign | Inborn genetic diseases | 2021-09-01 | 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. |