Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000395874 | SCV000441079 | uncertain significance | Nephronophthisis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000305784 | SCV000441080 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000360483 | SCV000441081 | uncertain significance | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957772 | SCV004781243 | likely benign | NPHP3-related condition | 2022-11-18 | 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). |