Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000933384 | SCV001079082 | likely benign | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925809 | SCV004741432 | likely benign | LRPPRC-related disorder | 2019-10-01 | 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). |
Natera, |
RCV001276353 | SCV001462531 | likely benign | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2020-09-16 | no assertion criteria provided | clinical testing |