Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081478 | SCV000113409 | benign | not specified | 2014-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000150009 | SCV000196869 | benign | Congenital muscular dystrophy | 2014-04-01 | criteria provided, single submitter | clinical testing | The variant is found in CORTICAL-BRAIN panel(s). |
Illumina Laboratory Services, |
RCV000265747 | SCV000477650 | likely benign | Limb-Girdle Muscular Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000081478 | SCV000540101 | benign | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 1457/12518=11.6% |
Invitae | RCV001517753 | SCV001726319 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789135 | SCV002031736 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789133 | SCV002031737 | benign | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001789134 | SCV002031738 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2K | 2021-10-25 | criteria provided, single submitter | clinical testing |