Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827366 | SCV000969009 | likely benign | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001488885 | SCV001693412 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319938 | SCV002607750 | uncertain significance | Cardiovascular phenotype | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.3114G>A variant (also known as p.V1038V), located in coding exon 20 of the FLNC gene, results from a G to A substitution at nucleotide position 3114. This nucleotide substitution does not change the valine at codon 1038. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |