Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001532408 | SCV000209392 | benign | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000159446 | SCV000598020 | benign | not specified | 2016-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000345902 | SCV000763937 | likely benign | Mowat-Wilson syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313011 | SCV000847542 | likely benign | Inborn genetic diseases | 2016-08-23 | 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 |
RCV001532408 | SCV001747963 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ZEB2: PP2, BS2 |
Genome- |
RCV000345902 | SCV002045695 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001532408 | SCV001928442 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001532408 | SCV001969351 | likely benign | not provided | no assertion criteria provided | clinical testing |