Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086718 | SCV001007482 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952538 | SCV004778393 | likely benign | CEP290-related condition | 2022-11-02 | 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). |
Richard Lifton Laboratory, |
RCV000087240 | SCV000120103 | unknown | not provided | flagged submission | not provided | Converted during submission to Uncertain significance. | |
Richard Lifton Laboratory, |
RCV000087240 | SCV000155207 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |