Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000725843 | SCV000339891 | uncertain significance | not provided | 2016-03-03 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000725843 | SCV000535631 | uncertain significance | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the EMD gene. The R204G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R204G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Finally, the Exome Aggregation Consortium (ExAC) reports R204G was observed in 17/9310 alleles (0.18%) in individuals of Latino background, including 5 hemizygous males, indicating it may be a rare benign variant in this population.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time. |
| Labcorp Genetics |
RCV001088437 | SCV001019838 | likely benign | X-linked Emery-Dreifuss muscular dystrophy | 2024-01-20 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV003492028 | SCV003831907 | uncertain significance | Emery-Dreifuss muscular dystrophy 1, X-linked | 2021-06-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004619245 | SCV005114674 | likely benign | Cardiovascular phenotype | 2024-05-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |