Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649184 | SCV000771009 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762481 | SCV000892804 | uncertain significance | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196412 | SCV001367020 | uncertain significance | Hypertrophic cardiomyopathy 26 | 2019-01-24 | 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: PP3,BS1. |
Gene |
RCV000762481 | SCV001830605 | likely benign | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar by another clinical laboratory as a variant of uncertain significance (ClinVar Variant ID 539449; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Ambry Genetics | RCV002325300 | SCV002610967 | uncertain significance | Cardiovascular phenotype | 2022-03-15 | criteria provided, single submitter | clinical testing | The p.A1081V variant (also known as c.3242C>T), located in coding exon 21 of the FLNC gene, results from a C to T substitution at nucleotide position 3242. The alanine at codon 1081 is replaced by valine, an amino acid with similar properties. 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, |
RCV000762481 | SCV003831429 | uncertain significance | not provided | 2019-08-12 | criteria provided, single submitter | clinical testing |