Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557063 | SCV000651079 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532120 | SCV001747532 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | FLNC: BS1 |
Ambry Genetics | RCV002350349 | SCV002652778 | uncertain significance | Cardiovascular phenotype | 2023-03-24 | criteria provided, single submitter | clinical testing | The p.H1834Y variant (also known as c.5500C>T), located in coding exon 33 of the FLNC gene, results from a C to T substitution at nucleotide position 5500. The histidine at codon 1834 is replaced by tyrosine, an amino acid with similar properties. 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. |
Gene |
RCV001532120 | SCV004036886 | uncertain significance | not provided | 2023-06-12 | 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 |
Revvity Omics, |
RCV001532120 | SCV004234814 | uncertain significance | not provided | 2023-02-27 | criteria provided, single submitter | clinical testing |