Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313525 | SCV000848575 | likely benign | Inborn genetic diseases | 2016-12-23 | 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. |
Invitae | RCV000899946 | SCV001044240 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000899946 | SCV001885512 | benign | not provided | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003338757 | SCV004049795 | likely benign | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000899946 | SCV004124633 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | POGZ: BS1, BS2 |