Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817903 | SCV000958488 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001702722 | SCV001992167 | uncertain significance | not provided | 2019-04-17 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32112656) |
Ambry Genetics | RCV004028930 | SCV005017770 | uncertain significance | Cardiovascular phenotype | 2024-02-21 | criteria provided, single submitter | clinical testing | The p.D646N variant (also known as c.1936G>A), located in coding exon 12 of the FLNC gene, results from a G to A substitution at nucleotide position 1936. The aspartic acid at codon 646 is replaced by asparagine, an amino acid with highly similar properties. This variant has been detected in an individual with unspecified myopathy; however, details were limited (Verdonschot JAJ et al. Hum Mutat, 2020 Jun;41:1091-1111). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |
Genome Diagnostics Laboratory, |
RCV001702722 | SCV001932636 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702722 | SCV001959887 | uncertain significance | not provided | no assertion criteria provided | clinical testing |