Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000712783 | SCV000725351 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712783 | SCV000843310 | benign | not provided | 2017-09-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081614 | SCV001002021 | benign | Hereditary spastic paraplegia 39 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905628 | SCV004726440 | likely benign | PNPLA6-related condition | 2019-08-28 | 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). |