Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816208 | SCV000956705 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406859 | SCV002721206 | uncertain significance | Cardiovascular phenotype | 2023-04-18 | criteria provided, single submitter | clinical testing | The p.R629Q variant (also known as c.1886G>A), located in coding exon 12 of the FLNC gene, results from a G to A substitution at nucleotide position 1886. The arginine at codon 629 is replaced by glutamine, an amino acid with highly similar properties. This variant has been reported in a dilated cardiomyopathy (DCM) cohort; however, clinical details were limited (Janin A et al. Clin Genet, 2017 Dec;92:616-623). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001702721 | SCV003831403 | uncertain significance | not provided | 2019-08-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486933 | SCV004240618 | uncertain significance | Cardiomyopathy | 2023-06-06 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001702721 | SCV001929185 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702721 | SCV001971584 | uncertain significance | not provided | no assertion criteria provided | clinical testing |