Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805817 | SCV000945788 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577432 | SCV001804805 | uncertain significance | not provided | 2019-10-21 | 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 |
Ambry Genetics | RCV002332645 | SCV002634200 | uncertain significance | Cardiovascular phenotype | 2023-05-11 | criteria provided, single submitter | clinical testing | The p.R334C variant (also known as c.1000C>T), located in coding exon 6 of the FLNC gene, results from a C to T substitution at nucleotide position 1000. The arginine at codon 334 is replaced by cysteine, an amino acid with highly dissimilar 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. |
Fulgent Genetics, |
RCV002501083 | SCV002777367 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001577432 | SCV003831428 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing |