Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000252680 | SCV000306915 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000725488 | SCV000337265 | uncertain significance | not provided | 2018-04-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000252680 | SCV000727868 | likely benign | not specified | 2018-02-28 | 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 | RCV001088417 | SCV000770624 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725488 | SCV004147400 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | DAG1: BP4, BP7 |