Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497397 | SCV000590284 | uncertain significance | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#432546; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV000697254 | SCV000825854 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367676 | SCV002664157 | uncertain significance | Cardiovascular phenotype | 2022-09-21 | criteria provided, single submitter | clinical testing | The p.G2370S variant (also known as c.7108G>A), located in coding exon 42 of the FLNC gene, results from a G to A substitution at nucleotide position 7108. The glycine at codon 2370 is replaced by serine, 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. |
Fulgent Genetics, |
RCV002506204 | SCV002816585 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000497397 | SCV003833120 | uncertain significance | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000497397 | SCV004224109 | uncertain significance | not provided | 2023-04-03 | criteria provided, single submitter | clinical testing | BS2 |