Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000882555 | SCV001025800 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495352 | SCV002799491 | likely benign | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920572 | SCV004731371 | likely benign | COL4A1-related condition | 2022-10-24 | 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). |