Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687144 | SCV000814696 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592866 | SCV001815408 | likely benign | not provided | 2021-01-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 567146; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002360721 | SCV002664858 | uncertain significance | Cardiovascular phenotype | 2022-08-19 | criteria provided, single submitter | clinical testing | The p.R2230H variant (also known as c.6689G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6689. The arginine at codon 2230 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not 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. |