Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000734411 | SCV000618694 | uncertain significance | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000539559 | SCV000651026 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734411 | SCV000862552 | uncertain significance | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329238 | SCV002630890 | uncertain significance | Cardiovascular phenotype | 2022-02-08 | criteria provided, single submitter | clinical testing | The p.R1434H variant (also known as c.4301G>A), located in coding exon 25 of the FLNC gene, results from a G to A substitution at nucleotide position 4301. The arginine at codon 1434 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Fulgent Genetics, |
RCV002497017 | SCV002816756 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-09-06 | criteria provided, single submitter | clinical testing |