Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809766 | SCV000949940 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585738 | SCV001819432 | uncertain significance | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 653911; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV004028681 | SCV005017712 | uncertain significance | Cardiovascular phenotype | 2023-09-23 | criteria provided, single submitter | clinical testing | The p.R1609W variant (also known as c.4825C>T), located in coding exon 28 of the FLNC gene, results from a C to T substitution at nucleotide position 4825. The arginine at codon 1609 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |