Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987027 | SCV001136208 | benign | AICA-ribosiduria | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000987027 | SCV001775036 | benign | AICA-ribosiduria | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067574 | SCV002414636 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972998 | SCV004797493 | benign | ATIC-related condition | 2019-10-18 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |