Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490473 | SCV000267420 | uncertain significance | Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 | 2016-03-18 | criteria provided, single submitter | reference population | |
Eurofins Ntd Llc |
RCV000728486 | SCV000856065 | likely benign | not specified | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521519 | SCV001730879 | benign | Nephronophthisis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952694 | SCV004774945 | benign | NPHP1-related condition | 2022-06-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Molecular Diagnostics Laboratory, |
RCV000144477 | SCV000189612 | uncertain significance | Leber congenital amaurosis | 2014-09-18 | no assertion criteria provided | clinical testing |