Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595721 | SCV000707967 | uncertain significance | not provided | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088801 | SCV001098562 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000595721 | SCV001475601 | likely benign | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000595721 | SCV004160518 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | SYNE1: BP4, BP7 |