Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000811509 | SCV000951777 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-09 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002363101 | SCV002661239 | uncertain significance | Cardiovascular phenotype | 2022-06-16 | criteria provided, single submitter | clinical testing | The p.R2180C variant (also known as c.6538C>T), located in coding exon 40 of the FLNC gene, results from a C to T substitution at nucleotide position 6538. The arginine at codon 2180 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was reported in a subject with arrhythmogenic cardiomyopathy (Verdonschot JAJ et al. Hum Mutat, 2020 06;41:1091-1111). 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, |
RCV003145167 | SCV003833063 | uncertain significance | not provided | 2023-08-22 | criteria provided, single submitter | clinical testing |