Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696383 | SCV000824943 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003238803 | SCV003936228 | uncertain significance | not provided | 2022-12-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Ambry Genetics | RCV003303151 | SCV003998850 | uncertain significance | Cardiovascular phenotype | 2023-05-03 | criteria provided, single submitter | clinical testing | The p.A2329G variant (also known as c.6986C>G), located in coding exon 41 of the FLNC gene, results from a C to G substitution at nucleotide position 6986. The alanine at codon 2329 is replaced by glycine, an amino acid with similar properties. This amino acid position is well 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. |