Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649153 | SCV000770978 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001171871 | SCV001714853 | uncertain significance | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001171871 | SCV001788611 | likely benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 539419; Landrum et al., 2016) |
Ambry Genetics | RCV002422377 | SCV002725658 | uncertain significance | Cardiovascular phenotype | 2022-04-15 | criteria provided, single submitter | clinical testing | The p.F690L variant (also known as c.2068T>C), located in coding exon 13 of the FLNC gene, results from a T to C substitution at nucleotide position 2068. The phenylalanine at codon 690 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001171871 | SCV003833044 | uncertain significance | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486911 | SCV004240620 | uncertain significance | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001171871 | SCV001925634 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001171871 | SCV001962863 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001171871 | SCV002038186 | uncertain significance | not provided | no assertion criteria provided | clinical testing |