Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246556 | SCV000315151 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000246556 | SCV000519859 | benign | not specified | 2016-09-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001513611 | SCV001721257 | benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002512072 | SCV002821773 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SYNE1: BS1, BS2 |