Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000394349 | SCV000333111 | likely benign | not specified | 2015-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059097 | SCV002409664 | benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502098 | SCV002809663 | 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 | 2022-05-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003909920 | SCV004726777 | likely benign | COL4A1-related condition | 2022-06-10 | 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). |