Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000264784 | SCV000480850 | uncertain significance | PSAT deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000893744 | SCV001037699 | benign | Neu-Laxova syndrome 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922656 | SCV004747339 | likely benign | PSAT1-related condition | 2022-06-18 | 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). |
Diagnostic Laboratory, |
RCV001529794 | SCV001743884 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529794 | SCV001929251 | likely benign | not provided | no assertion criteria provided | clinical testing |