Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699749 | SCV000828474 | likely benign | Desbuquois dysplasia 1 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001771984 | SCV001994317 | uncertain significance | not provided | 2019-07-24 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003907952 | SCV004718460 | likely benign | XYLT1-related condition | 2022-05-23 | 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). |