Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316050 | SCV000847476 | likely benign | Inborn genetic diseases | 2016-08-04 | 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 | RCV000898135 | SCV001042325 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000898135 | SCV001868409 | benign | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003338753 | SCV004049841 | likely benign | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000898135 | SCV004124649 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | POGZ: BP4, BP7, BS1 |
Prevention |
RCV003938064 | SCV004766354 | likely benign | POGZ-related condition | 2019-11-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |