Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596510 | SCV000707392 | uncertain significance | not provided | 2017-03-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532566 | SCV003496745 | benign | Nephronophthisis | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892140 | SCV004710854 | likely benign | NPHP3-related condition | 2021-12-09 | 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). |