Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788664 | SCV000927855 | uncertain significance | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000794882 | SCV000934316 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788664 | SCV001981939 | uncertain significance | not provided | 2021-09-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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# 636749; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Ambry Genetics | RCV003279061 | SCV004004576 | uncertain significance | Cardiovascular phenotype | 2023-03-16 | criteria provided, single submitter | clinical testing | The p.A2427V variant (also known as c.7280C>T), located in coding exon 44 of the FLNC gene, results from a C to T substitution at nucleotide position 7280. The alanine at codon 2427 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Institute of Human Genetics, |
RCV003117578 | SCV003797050 | uncertain significance | Cardiomyopathy | no assertion criteria provided | clinical testing |