Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811462 | SCV000884292 | uncertain significance | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335151 | SCV001528233 | uncertain significance | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 2018-10-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001811462 | SCV002389489 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938134 | SCV004750225 | likely benign | PCK2-related condition | 2022-05-09 | 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). |