Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488298 | SCV000575342 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089162 | SCV001017590 | likely benign | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335294 | SCV001528412 | uncertain significance | Infantile GM1 gangliosidosis | 2018-03-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003960135 | SCV004775903 | likely benign | GLB1-related condition | 2022-04-28 | 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). |