Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000914600 | SCV001059782 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958370 | SCV004771776 | likely benign | ATP6V1B1-related condition | 2019-12-17 | 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). |
Natera, |
RCV001276712 | SCV001463239 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2020-04-24 | no assertion criteria provided | clinical testing |