Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000358463 | SCV000431921 | uncertain significance | Alstrom syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910302 | SCV004727026 | likely benign | ALMS1-related condition | 2021-09-26 | 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). |