Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560832 | SCV000656896 | likely benign | Intellectual disability, autosomal recessive 53 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000560832 | SCV001529537 | uncertain significance | Intellectual disability, autosomal recessive 53 | 2018-05-27 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002527925 | SCV003754795 | likely benign | Inborn genetic diseases | 2021-09-17 | 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. |
Prevention |
RCV003915647 | SCV004729731 | likely benign | PIGG-related condition | 2021-04-09 | 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). |