Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535936 | SCV000650980 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569474 | SCV001793559 | uncertain significance | not provided | 2022-11-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30681346) |
Ambry Genetics | RCV002448766 | SCV002611794 | uncertain significance | Cardiovascular phenotype | 2023-12-08 | criteria provided, single submitter | clinical testing | The p.A1081T variant (also known as c.3241G>A), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3241. The alanine at codon 1081 is replaced by threonine, an amino acid with similar properties. This variant has been detected in peripartum cardiomyopathy cohort (Goli R et al. Circulation. 2021 May;143(19):1852-1862). This amino acid position is highly conserved in available vertebrate species. 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. |
Revvity Omics, |
RCV001569474 | SCV003833186 | uncertain significance | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing |