Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197617 | SCV001368396 | uncertain significance | Hypertrophic cardiomyopathy 26 | 2020-03-12 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1. |
Fulgent Genetics, |
RCV002480648 | SCV002788555 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2022-02-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004033473 | SCV005017692 | uncertain significance | Cardiovascular phenotype | 2023-09-23 | criteria provided, single submitter | clinical testing | The p.F829V variant (also known as c.2485T>G), located in coding exon 16 of the FLNC gene, results from a T to G substitution at nucleotide position 2485. The phenylalanine at codon 829 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |