Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554572 | SCV000650890 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755874 | SCV001996316 | uncertain significance | not provided | 2019-09-23 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in one individual from a control cohort (Gomez et al., 2017); This variant is associated with the following publications: (PMID: 28356264) |
Ambry Genetics | RCV002448759 | SCV002679373 | uncertain significance | Cardiovascular phenotype | 2022-08-16 | criteria provided, single submitter | clinical testing | The p.R421W variant (also known as c.1261C>T), located in coding exon 8 of the FLNC gene, results from a C to T substitution at nucleotide position 1261. The arginine at codon 421 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration was reported in one ostensibly healthy individual (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002491076 | SCV002785013 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-12-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001755874 | SCV003833179 | uncertain significance | not provided | 2020-02-28 | criteria provided, single submitter | clinical testing |