Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000332507 | SCV000337323 | likely benign | not specified | 2017-04-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000332507 | SCV000615569 | benign | not specified | 2018-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000877712 | SCV001020489 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422195 | SCV004160554 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SYNE1: BP4, BS2 |