Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686476 | SCV000813995 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388199 | SCV002672054 | uncertain significance | Cardiovascular phenotype | 2019-06-24 | criteria provided, single submitter | clinical testing | The p.E2516K variant (also known as c.7546G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7546. The glutamic acid at codon 2516 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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, |
RCV003144485 | SCV003831447 | uncertain significance | not provided | 2020-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003144485 | SCV004012328 | uncertain significance | not provided | 2023-06-06 | 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 (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26582918) |