Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001992843 | SCV002226890 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002281204 | SCV002569817 | uncertain significance | not provided | 2022-08-09 | 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 |
Ambry Genetics | RCV002334956 | SCV002638159 | uncertain significance | Cardiovascular phenotype | 2019-12-02 | criteria provided, single submitter | clinical testing | The p.V1560L variant (also known as c.4678G>C), located in coding exon 27 of the FLNC gene, results from a G to C substitution at nucleotide position 4678. The valine at codon 1560 is replaced by leucine, an amino acid with highly similar properties. 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, |
RCV002281204 | SCV003833600 | uncertain significance | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing |