Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000659090 | SCV000344356 | uncertain significance | not provided | 2016-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649149 | SCV000770974 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000659090 | SCV000780900 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000659090 | SCV001804941 | uncertain significance | not provided | 2018-10-12 | criteria provided, single submitter | clinical testing | In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002338860 | SCV002638733 | uncertain significance | Cardiovascular phenotype | 2019-09-16 | criteria provided, single submitter | clinical testing | The p.R1627H variant (also known as c.4880G>A), located in coding exon 28 of the FLNC gene, results from a G to A substitution at nucleotide position 4880. The arginine at codon 1627 is replaced by histidine, an amino acid with highly 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. |