Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726050 | SCV000341510 | uncertain significance | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726050 | SCV000530856 | likely benign | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26058580) |
Invitae | RCV001082926 | SCV001000695 | likely benign | Joubert syndrome 8 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726050 | SCV004150521 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ARL13B: BP4, BS2 |
Prevention |
RCV003940043 | SCV004747311 | likely benign | ARL13B-related condition | 2022-05-09 | 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). |